IPEX syndrome is a rare, hereditary autoimmune disorder that causes dysfunction of multiple endocrine (hormone-producing) glands and inflammation of the intestine.
(See also Polyglandular Deficiency Syndromes.)
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. IPEX stands for
Immune dysregulation (problems with the immune system)
Polyendocrinopathy (disorders of more than one endocrine gland)
Enteropathy (disorder of the intestine)
X-linked (defective gene is on the X chromosome)
Mainly boys are affected because the disorder is inherited through an X-linked recessive gene. The defective gene is carried on the X chromosome, which is one of the sex chromosomes. Girls have two X chromosomes, so if one X chromosome contains a defective gene, the girl still has another X chromosome with a functioning gene. Boys 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 child's symptoms and the findings during the physical examination. Doctors use genetic tests to confirm the diagnosis. Family members of boys with the defective gene also may be recommended to have genetic testing.
Untreated, IPEX syndrome is usually fatal during the first year of life. Stem cell transplantation can prolong life and decrease some of the symptoms from the autoimmune disorders.
