IPEX Syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, more commonly known as IPEX syndrome, is a rare genetic disorder that can present early in life with diabetes, diarrhea and eczema. The condition is extremely rare, affecting about 1 in every 1.6 million people, and most often presents in early infancy.

The syndrome is characterized by severe enteropathy, chronic dermatitis, early onset type I diabetes mellitus (T1DM), thyroid disease and other autoimmune symptoms.

In most cases, IPEX syndrome is caused by variations in the FOXP3 gene, which guides the production of regulatory T cells, a type of immune cells. Without a normal FOXP3 gene, other immune cells in the body mistakenly attack healthy tissues.

The FOXP3 gene is carried on the X chromosome and almost exclusively affects boys, who only have one X chromosome (girls can be carriers of this condition). Children with IPEX syndrome are typically treated with immunosuppressive medications, with varying levels of success.

IPEX syndrome is also known as X-linked autoimmunity-allergic dysregulation syndrome (XLAAD), IDDM secretory diarrhea syndrome and XPID.

Reference: Children’s Hospital of Philadelphia