학술논문
Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Document Type
Academic Journal
Author
Source
Pediatric Dermatology. Nov 01, 2013 30(6):e221-e222
Subject
Language
English
ISSN
0736-8046
Abstract
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).