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A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review.

Abstract The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunistic infections are a prominent clinical feature of XHIGM. However, toxoplasma encephalitis occurs sporadically and is extremely rare in patients with XHIGM.
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29245273
OWN - NLM
STAT- MEDLINE
DCOM- 20180105
LR  - 20180105
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 49
DP  - 2017 Dec
TI  - A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic
      encephalitis in a child: A case report and literature review.
PG  - e8989
LID - 10.1097/MD.0000000000008989 [doi]
AB  - INTRODUCTION: The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon
      primary combined immunodeficiency disease caused by CD40L gene mutations. A
      delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical 
      immunoglobulin profile and phenotype of some patients, low recognition, and
      limited knowledge of clinicians on XHIGM in some underdeveloped areas.
      Opportunistic infections are a prominent clinical feature of XHIGM. However,
      toxoplasma encephalitis occurs sporadically and is extremely rare in patients
      with XHIGM. DIAGNOSTIC AND THERAPEUTIC PROCEDURE: A 2 years and 10 months' old
      male suffered from 3 times of serious infection since 1 year and 4 months of age.
      Although with history of recurrent respiratory infections, protracted diarrhea,
      persistent or intermittent neutropenia companioned with oral ulcer, and a typical
      immunoglobulin profile during his second disease attack, the consideration of
      XHIGM was still completely ignored because of our low recognition and limited
      knowledge of this disorder. The diagnosis of XHIGM was ultimately confirmed by
      detection of elevated serum IgM concentration, decreased serum IgG and IgE
      concentration, and identification of a mutation c.654C>A (p.C218X) in CD40L gene.
      Given clinical manifestation of lethargy, uncontrollable somnolence and ataxia, a
      cat/dog exposure history, positive serum Toxoplasma gondii (T gondii) IgM,
      positive cerebrospinal fluid T gondii PCR results, and typical characteristics of
      brain magnetic resonance imaging as multiple rings liked nodules lesions in
      bilateral cerebral hemisphere cortex, bilateral basal ganglia, and dorsal
      thalamus, the diagnosis of toxoplasmic encephalitis was considered during his
      third disease attack. Thereafter, oral administration of sulfadiazine and
      azithromycin, intravenous immunoglobulin, and subcutaneous injection of G-CSF
      were initiated. Regrettably, the patient abandoned the treatment because of
      economic factor and died 3 months after discharge. CONCLUSIONS: A more thorough
      clinical history and some features like recurrent respiratory infections,
      protracted diarrhea, and persistent or intermittent neutropenia companioned with 
      oral ulcer could increase clinical suspicion of XHIGM. Cerebral toxoplasmosis is 
      rare in patients with XHIGM, but still should be considered. The present study
      firstly reported a delayed diagnosed case of XHIGM with CD40L gene c.654C>A
      (p.C218X) mutant complicated with toxoplasma encephalitis in Chinese population, 
      which highlighted the importance of CD40-CD40L interaction in cell-mediated
      immunity against T gondii.
FAU - Liu, Xiaoliang
AU  - Liu X
AD  - aDepartment of Pediatrics, West China Second University Hospital, Sichuan
      University, ChengdubKey Laboratory of Birth Defects and Related Diseases of Women
      and Children (Sichuan University), Ministry of Education Chengdu, Sichuan, China.
FAU - Zhou, Kaiyu
AU  - Zhou K
FAU - Yu, Dan
AU  - Yu D
FAU - Cai, Xiaotang
AU  - Cai X
FAU - Hua, Yimin
AU  - Hua Y
FAU - Zhou, Hui
AU  - Zhou H
FAU - Wang, Chuan
AU  - Wang C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Child, Preschool
MH  - Humans
MH  - Hyper-IgM Immunodeficiency Syndrome, Type
      1/*complications/*diagnosis/physiopathology
MH  - Male
MH  - Toxoplasmosis, Cerebral/*complications/*diagnosis/physiopathology
PMC - PMC5728888
EDAT- 2017/12/17 06:00
MHDA- 2018/01/06 06:00
CRDT- 2017/12/17 06:00
PHST- 2017/12/17 06:00 [entrez]
PHST- 2017/12/17 06:00 [pubmed]
PHST- 2018/01/06 06:00 [medline]
AID - 10.1097/MD.0000000000008989 [doi]
AID - 00005792-201712080-00062 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Dec;96(49):e8989. doi: 10.1097/MD.0000000000008989.