(See also Polyglandular Deficiency Syndromes Polyglandular Deficiency Syndromes Polyglandular deficiency syndromes are hereditary disorders in which several endocrine glands malfunction simultaneously or sequentially. Endocrine glands are organs that secrete one or more... read more .)
Endocrine glands Endocrine Glands The endocrine system consists of a group of glands and organs that regulate and control various body functions by producing and secreting hormones. Hormones are chemical substances that affect... read more are organs that secrete one or more specific hormones. IPEX syndrome may be related to an autoimmune reaction Autoimmune Disorders An autoimmune disorder is a malfunction of the body's immune system that causes the body to attack its own tissues. What triggers an autoimmune disorder is not known. Symptoms vary depending... read more 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 (problems with the immune system)
Polyendocrinopathy (disorders of more than one endocrine gland Polyglandular Deficiency Syndromes Polyglandular deficiency syndromes are hereditary disorders in which several endocrine glands malfunction simultaneously or sequentially. Endocrine glands are organs that secrete one or more... read more )
Enteropathy (disorder of the intestine)
X-linked (defective gene is on the X chromosome)
Mainly boys are affected because the disorder is inherited in an X-linked recessive fashion X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . 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 Diabetes Mellitus (DM) Diabetes mellitus is a disorder in which the body does not produce enough or respond normally to insulin, causing blood sugar (glucose) levels to be abnormally high. Urination and thirst are... read more , red irritated patches of skin (eczema Atopic Dermatitis (Eczema) Atopic dermatitis (commonly referred to as eczema) is chronic, itchy inflammation of the upper layers of the skin that often develops in people who have hay fever or asthma and in people who... read more ), food allergies Food Allergy A food allergy is an allergic reaction to a particular food. Food allergies are commonly triggered by certain nuts, peanuts, shellfish, fish, milk, eggs, wheat, and soybeans. Symptoms vary by... read more , 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. 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 Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more can prolong life and decrease some of the symptoms of autoimmune conditions.