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 (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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