A mystery diagnosis: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked recessive

Abstract

Immune dysregulation, polyendocrinopathy enteropathy, X-linked syndrome (IPEX), a rare disease, has recently been shown to occur more frequently than previously suspected. The clinical phenotype of IPEX is a direct result of an overactive immune system caused by the proliferation of autoaggressive T cells and autoantibody-producing B cells. Without prompt diagnosis and treatment, the disease can be fatal within 1 year.