Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
Patients with the rare X-linked syndrome, immune dysregulation, polyendocrinopathy, enteropathy (IPEX) may present early in life with type I diabetes, hyperthyroidism, chronic enteropathy, villous atrophy, dermatitis, autoimmune hemolytic anemia, and antibody- induced neutropenia and thrombocytopenia. Of the reported families with IPEX, most affected boys died before the age of 3 years of malabsorbtion, failure to thrive, infections, or other complications. Characteristic findings at autopsy include lymphocytic infiltrates affecting the lungs, endocrine organs, such as pancreas and thyroid and skin, and increased lymphoid elements in lymph nodes and spleen. Although symptomatic therapy with immunosuppressive drugs provides some beneficial effects, the only curative treatment is hematopoietic stem cell transplantation.
Ochs
Hans D
HD
University of Washington, Seattle, WA, USA. allgau@u.washington.edu
Torgerson
Troy R
TR
D000374:Aggression; D000818:Animals; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000502:physiology; D008040:Genetic Linkage; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007154:Immune System Diseases / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D051379:Mice; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics; D011504:Protein-Losing Enteropathies / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors