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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Abstract Background Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. Methods We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55. Results We identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of protein expression. Patients' T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of soluble C5a. Costimulatory function and cytokine modulation by CD55 were defective. Genetic reconstitution of CD55 or treatment with a complement-inhibitory therapeutic antibody reversed abnormal complement activation. Conclusions CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).
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Journal Title the new england journal of medicine
Publication Year Start




PMID- 28657829
OWN - NLM
STAT- Publisher
DA  - 20170628
LR  - 20170628
IS  - 1533-4406 (Electronic)
IS  - 0028-4793 (Linking)
DP  - 2017 Jun 28
TI  - CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
LID - 10.1056/NEJMoa1615887 [doi]
AB  - Background Studies of monogenic gastrointestinal diseases have revealed molecular
      pathways critical to gut homeostasis and enabled the development of targeted
      therapies. Methods We studied 11 patients with abdominal pain and diarrhea caused
      by early-onset protein-losing enteropathy with primary intestinal
      lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less
      frequently, bowel inflammation, recurrent infections, and angiopathic
      thromboembolic disease; the disorder followed an autosomal recessive pattern of
      inheritance. Whole-exome sequencing was performed to identify gene variants. We
      evaluated the function of CD55 in patients' cells, which we confirmed by means of
      exogenous induction of expression of CD55. Results We identified homozygous
      loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor),
      which lead to loss of protein expression. Patients' T lymphocytes showed
      increased complement activation causing surface deposition of complement and the 
      generation of soluble C5a. Costimulatory function and cytokine modulation by CD55
      were defective. Genetic reconstitution of CD55 or treatment with a
      complement-inhibitory therapeutic antibody reversed abnormal complement
      activation. Conclusions CD55 deficiency with hyperactivation of complement,
      angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is
      caused by abnormal complement activation due to biallelic loss-of-function
      mutations in CD55. (Funded by the National Institute of Allergy and Infectious
      Diseases and others.).
FAU - Ozen, Ahmet
AU  - Ozen A
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Comrie, William A
AU  - Comrie WA
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Ardy, Rico C
AU  - Ardy RC
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Dominguez Conde, Cecilia
AU  - Dominguez Conde C
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Dalgic, Buket
AU  - Dalgic B
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Beser, Omer F
AU  - Beser OF
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Morawski, Aaron R
AU  - Morawski AR
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Karakoc-Aydiner, Elif
AU  - Karakoc-Aydiner E
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Tutar, Engin
AU  - Tutar E
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Baris, Safa
AU  - Baris S
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Ozcay, Figen
AU  - Ozcay F
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Serwas, Nina K
AU  - Serwas NK
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Zhang, Yu
AU  - Zhang Y
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Matthews, Helen F
AU  - Matthews HF
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Pittaluga, Stefania
AU  - Pittaluga S
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Folio, Les R
AU  - Folio LR
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Unlusoy Aksu, Aysel
AU  - Unlusoy Aksu A
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - McElwee, Joshua J
AU  - McElwee JJ
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Krolo, Ana
AU  - Krolo A
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Kiykim, Ayca
AU  - Kiykim A
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Baris, Zeren
AU  - Baris Z
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Gulsan, Meltem
AU  - Gulsan M
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Ogulur, Ismail
AU  - Ogulur I
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Snapper, Scott B
AU  - Snapper SB
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Houwen, Roderick H J
AU  - Houwen RHJ
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Leavis, Helen L
AU  - Leavis HL
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Ertem, Deniz
AU  - Ertem D
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Kain, Renate
AU  - Kain R
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Sari, Sinan
AU  - Sari S
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Erkan, Tulay
AU  - Erkan T
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Su, Helen C
AU  - Su HC
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Boztug, Kaan
AU  - Boztug K
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
FAU - Lenardo, Michael J
AU  - Lenardo MJ
AD  - From the Section of Molecular Development of the Immune System, Laboratory of
      Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program 
      (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological
      Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute 
      of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer 
      Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.),
      National Institutes of Health, Bethesda, MD; the Department of Pediatrics,
      Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center 
      for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and
      the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology,
      and Nutrition, Istanbul University Cerrahpasa Faculty of Medicine (O.F.B., T.E.),
      Istanbul, and the Department of Pediatrics, Division of Pediatric
      Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the
      Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of
      Medicine, Baskent University (F.O., Z.B., M.G.), and the Pediatric
      Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all
      in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the
      CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
      (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.),
      the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna
      Kinderspital and Children's Cancer Research Institute, Department of Pediatrics
      (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories
      (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston
      Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department 
      of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's
      Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, 
      University Medical Center (H.L.L.), Utrecht, the Netherlands.
LA  - eng
PT  - Journal Article
DEP - 20170628
PL  - United States
TA  - N Engl J Med
JT  - The New England journal of medicine
JID - 0255562
EDAT- 2017/06/29 06:00
MHDA- 2017/06/29 06:00
CRDT- 2017/06/29 06:00
AID - 10.1056/NEJMoa1615887 [doi]
PST - aheadofprint
SO  - N Engl J Med. 2017 Jun 28. doi: 10.1056/NEJMoa1615887.

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