The IPEX Syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked Syndrome)
Synonyms: X-linked autoimmunity, allergic dysregulation syndrome (XLAAD); X-linked syndrome of polyendocrinopathy, immune dysfunction and diarrhea (XLD).
Inheritance: X-linked (affects males)
Genetic defect: A defect in the FOXP3 gene (Xp11.2-q13.3, Forkhead box protein P3) is found in about 60% of patients
Clinical triad:
(1) endocrinopathy, with autoimmune diabetes mellitus, autoimmune thyroid disease, other
(2) enteropathy, with watery diarrhea starting in infancy, malabsorption and villous atrophy in small bowel biopsies
(3) dermatitis, which may be eczematous, erythodermatous, exfolliative, or psoriasis-like
Other findings:
(1) tubular nephropathy
(2) lymphadenopathy and/or splenomegaly
(3) alopecia
Laboratory findings:
(1) autoantibodies to pancreas, thyroid and/or small bowel mucosa
(2) autoimmune anemia, neutropenia and/or thrombocytopenia
Most patients die during the first year of life, but prolonged survival may occur.
