IPEX syndrome

The acronym IPEX (MIM 304790) stands for Immunodysregulation, Polyendocrinopathy and Enteropathy with X-linked inheritance.

Affected boys develop watery diarrhoea, eczematous dermatitis and endocrinopathies with insulin-dependent diabetes mellitus and hypothyroidism during the first year of life. Additionally, the disorder can manifest with autoimmune thrombocytopenia, neutropenia, anemia and tubular neuropathy. Without aggressive immunosuppression or hematopoietic stem cell transplantation, the disease is usually lethal in early childhood.

Inheritance

X-linked

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Genes

The condition is caused by mutations in FOXP3 (MIM 300292).

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