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2009•Laboratory MedicineOpen access

A Mystery Diagnosis: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Recessive

Melissa E. Gischel, Carolyn E Beck, Margot Hall

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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.

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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.

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Available 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.

Key concepts: Immune dysregulation, Enteropathy, Immunology, Autoantibody, Immune system, Disease, Medicine, Autoimmunity

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