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).
- 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).