Autoinflammation antibody deficiency and immune dysregulation plcg2-associated

An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation.

Disease Alternative Name

immune dysfunction and diarrhea syndrome
immune dysregulation
polyendocrinopathy
and enteropathy x-linked syndrome
x linked polyendocrinopathy
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