Open AccessEarly-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report
Author(s) -
Na Su,
Chen Cheng,
XiaoQiu Zhou,
Guoda Ma,
Ri-Ling Chen,
Chen Tian
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i10.1988
Subject(s) - immune dysregulation , medicine , enteropathy , failure to thrive , immunology , foxp3 , diarrhea , primary immunodeficiency , malabsorption , gastroenterology , immune system , disease
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.