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:
Polyendocrinopathy - DM1, thyroiditis
Enteropathy - Life-threatening chronic diarrhea

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 (RAG enzyme defect).

IPEX-like syndromes:

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

Severe combined immunodeficiency (SCID) - 4 groups according to T/B/NK cells (click to enlarge the image).

Published: 08/29/2009
Updated: 08/29/2010

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