Immunodysregulation, polyendocrinopathy and enteropathy X-linked


Type of disease: Rare conditions

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a condition that affects the immune system of a male baby in the first six months of life.  The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis).  Some cases of IPEX syndrome have been shown to be caused by a change (mutation) of the FOXP3 gene, which is located on the X chromosome.  Treatment of IPEX syndrome consists of medications that limit immune system functioning; a bone marrow transplantation can cure some cases of this condition.   In a separate condition known as IPEX-like syndrome, affected individuals may have symptoms similar to those of IPEX syndrome but no mutation can be found in the FOXP3 gene; both males and females have been diagnosed with IPEX-like syndrome.  The cause of IPEX-like syndrome has not yet been identified. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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