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IPEX Syndrome

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

IPEX syndrome is a rare, hereditary autoimmune disorder that causes dysfunction of multiple endocrine glands and inflammation of the intestine.

Endocrine glands are organs that secrete one or more specific hormones. IPEX syndrome may be related to an autoimmune reaction in which the body's immune defenses mistakenly attack the body’s own cells.

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). Mainly boys are affected because the disorder is inherited in an X-linked recessive fashion. The defective gene is carried on the X chromosome, which is one of the sex chromosomes. Women have two X chromosomes, so if one X chromosome contains a defective gene, the woman still has another X chromosome with a functioning gene. Men have only one X chromosome, so if they inherit the defective gene from their mother they develop the disorder.

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. Stem cell transplantation can prolong life and decrease some of the symptoms of autoimmune conditions.