IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked) syndrome

Author: V. Dimov, M.D., Allergist/Immunologist and Assistant Professor at University of Chicago
Reviewer: S. Randhawa, M.D., Allergist/Immunologist and Assistant Professor at LSU (Shreveport) Department of Allergy and Immunology


T-cell Immunodeficiencies (click to enlarge the image).

IPEX is an acronym for:
Immunodysregulation
Polyendocrinopathy - DM1, thyroiditis
Enteropathy - Life-threatening chronic diarrhea
X-linked

The dermatitis is usually eczematous.

IPEX is rare, often fatal, X-linked disorder, first described in 1982. The first genetic mutations in FOXP3 were identified in 2000, Xp11.23. In normal circumstances, CD4 Treg cells are 5-10% of CD4 T cells. Symptoms in IPEX are similar to Omenn syndrome SCID.

IPEX-like syndromes:

- CD25 deficiency – alpha chain of IL-2 receptor
- STAT-5 deficiency

Published: 08/29/2009
Updated: 08/29/2009