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IPEX Syndrome

by Jennifer M. Barker, MD

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) is a recessive syndrome involving aggressive autoimmunity.

This rare disorder results from mutation of the transcriptional activator, FoxP3, which causes regulatory T-cell dysfunction and a subsequent autoimmune disorder.

IPEX syndrome manifests as severe enlargement of the secondary lymphoid organs, type 1 diabetes mellitus, eczema, food allergies, and infections. Secondary enteropathy leads to persistent diarrhea.

Diagnosis is suggested by clinical features and confirmed by genetic analysis.

Untreated, IPEX syndrome is usually fatal in the first year of life. Immunosuppressants and bone marrow transplantation can prolong life but are rarely curative.

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