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Autoimmunity and primary immunodeficiency: two sides of the same coin?

Abstract Autoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions; however, increased understanding of the complex immune regulatory and signalling mechanisms involved, coupled with the application of genetic analysis, is revealing the complex relationships between primary immunodeficiency syndromes and autoimmune diseases. Single-gene defects can cause rare diseases that predominantly present with autoimmune symptoms. Such genetic defects also predispose individuals to recurrent infections (a hallmark of immunodeficiency) and can cause primary immunodeficiencies, which can also lead to immune dysregulation and autoimmunity. Moreover, risk factors for polygenic rheumatic diseases often exist in the same genes as the mutations that give rise to primary immunodeficiency syndromes. In this Review, various primary immunodeficiency syndromes are presented, along with their pathogenetic mechanisms and relationship to autoimmune diseases, in an effort to increase awareness of immunodeficiencies that occur concurrently with autoimmune diseases and to highlight the need to initiate appropriate genetic tests. The growing knowledge of various genetically determined pathologic mechanisms in patients with immunodeficiencies who have autoimmune symptoms opens up new avenues for personalized molecular therapies that could potentially treat immunodeficiency and autoimmunity at the same time, and that could be further explored in the context of autoimmune rheumatic diseases.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title nature reviews. rheumatology
Publication Year Start




PMID- 29255211
OWN - NLM
STAT- MEDLINE
DCOM- 20171227
LR  - 20171227
IS  - 1759-4804 (Electronic)
IS  - 1759-4790 (Linking)
VI  - 14
IP  - 1
DP  - 2017 Dec 19
TI  - Autoimmunity and primary immunodeficiency: two sides of the same coin?
PG  - 7-18
LID - 10.1038/nrrheum.2017.198 [doi]
AB  - Autoimmunity and immunodeficiency were previously considered to be mutually
      exclusive conditions; however, increased understanding of the complex immune
      regulatory and signalling mechanisms involved, coupled with the application of
      genetic analysis, is revealing the complex relationships between primary
      immunodeficiency syndromes and autoimmune diseases. Single-gene defects can cause
      rare diseases that predominantly present with autoimmune symptoms. Such genetic
      defects also predispose individuals to recurrent infections (a hallmark of
      immunodeficiency) and can cause primary immunodeficiencies, which can also lead
      to immune dysregulation and autoimmunity. Moreover, risk factors for polygenic
      rheumatic diseases often exist in the same genes as the mutations that give rise 
      to primary immunodeficiency syndromes. In this Review, various primary
      immunodeficiency syndromes are presented, along with their pathogenetic
      mechanisms and relationship to autoimmune diseases, in an effort to increase
      awareness of immunodeficiencies that occur concurrently with autoimmune diseases 
      and to highlight the need to initiate appropriate genetic tests. The growing
      knowledge of various genetically determined pathologic mechanisms in patients
      with immunodeficiencies who have autoimmune symptoms opens up new avenues for
      personalized molecular therapies that could potentially treat immunodeficiency
      and autoimmunity at the same time, and that could be further explored in the
      context of autoimmune rheumatic diseases.
FAU - Schmidt, Reinhold E
AU  - Schmidt RE
AD  - Klinik fur Immunologie und Rheumatologie, Medizinische Hochschule Hannover (MHH),
      Carl-Neuberg Strasse 1, D-30625 Hannover, Germany.
FAU - Grimbacher, Bodo
AU  - Grimbacher B
AD  - Centre for Chronic Immunodeficiency, University Medical Centre, University of
      Freiburg, Faculty of Medicine, Breisacher Strasse 115, D-79106 Freiburg, Germany.
FAU - Witte, Torsten
AU  - Witte T
AD  - Klinik fur Immunologie und Rheumatologie, Medizinische Hochschule Hannover (MHH),
      Carl-Neuberg Strasse 1, D-30625 Hannover, Germany.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Nat Rev Rheumatol
JT  - Nature reviews. Rheumatology
JID - 101500080
SB  - IM
MH  - Arthritis, Rheumatoid/genetics/immunology
MH  - Autoimmune Diseases/*immunology/therapy
MH  - Autoimmunity/genetics/*immunology
MH  - Diagnosis, Differential
MH  - Genetic Diseases, Inborn/complications/genetics/immunology
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study/methods
MH  - Humans
MH  - Immunologic Deficiency Syndromes/genetics/*immunology/therapy
MH  - Lupus Erythematosus, Systemic/genetics/immunology
MH  - Molecular Targeted Therapy/methods
MH  - Mutation
MH  - Rare Diseases/genetics
MH  - Rheumatic Diseases/genetics/*immunology/therapy
MH  - Risk Factors
EDAT- 2017/12/20 06:00
MHDA- 2017/12/28 06:00
CRDT- 2017/12/20 06:00
PHST- 2017/12/20 06:00 [entrez]
PHST- 2017/12/20 06:00 [pubmed]
PHST- 2017/12/28 06:00 [medline]
AID - nrrheum.2017.198 [pii]
AID - 10.1038/nrrheum.2017.198 [doi]
PST - ppublish
SO  - Nat Rev Rheumatol. 2017 Dec 19;14(1):7-18. doi: 10.1038/nrrheum.2017.198.