Abstract | BACKGROUND: Immune dysregulation, polyendocrinopthy, enteropathy, X-linked ( IPEX) syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3 (FOXP3) gene, which is a master transcriptional regulator for the development and function of CD4+CD25+ regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. CASE SUMMARY: CONCLUSION: We report a novel FOXP3 gene mutation involved in IPEX. A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.
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Authors | Na Su, Cheng Chen, Xia Zhou, Guo-Da Ma, Ri-Ling Chen, Chuan Tian |
Journal | World journal of clinical cases
(World J Clin Cases)
Vol. 8
Issue 10
Pg. 1988-1994
(May 26 2020)
ISSN: 2307-8960 [Print] United States |
PMID | 32518791
(Publication Type: Case Reports)
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Copyright | ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |