Open AccessIPEX syndrome: Case report
Author(s) -
Nedeljko Radlović,
Dragana Janić,
Silvija Sajić,
Srdja Janković,
Maja Ješić,
Zoran Leković,
Rada Petrovic
Publication year - 2008
Publication title -
srpski arhiv za celokupno lekarstvo
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 17
eISSN - 2406-0895
pISSN - 0370-8179
DOI - 10.2298/sarh0810538r
Subject(s) - medicine , enteropathy , immunology , compound heterozygosity , failure to thrive , gastroenterology , disease , mutation , biochemistry , chemistry , gene
IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue.