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IPEX Syndrome

By Jennifer M. Barker, MD, Children's Hospital Colorado, Division of Pediatric Endocrinology

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IPEX syndrome is a rare, hereditary autoimmune disorder. Boys are primarily affected because the disorder is inherited in an X-linked recessive fashion, meaning that women carry the defective gene on their X chromosome and boys inherit that defective gene from their mothers. The disorder is named for the most common symptoms that occur in affected people. IPEX stands for immune dysregulation, polyendocrinopathy, enteropathy, X-linked, meaning the person has problems with the immune system, disorders of more than one endocrine gland, and inflammation of the intestine (enteropathy).

IPEX syndrome manifests as severe enlargement of lymph nodes, tonsils, adenoids, and spleen, type 1 diabetes mellitus, red irritated patches of skin (eczema), food allergies, and infections. Enteropathy causes persistent diarrhea.

Diagnosis is suggested by the person's symptoms and the findings during the physical examination. Doctors use genetic analysis to confirm the diagnosis.

Untreated, IPEX syndrome is usually fatal during the first year of life. Immunosuppressants and bone marrow transplantation can prolong life but rarely provide a cure.

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