IPEX syndrome
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease. It is one of the autoimmune polyendocrine syndromes. Most often, IPEX presents with autoimmune enteropathy, dermatitis (eczema), and autoimmune endocrinopathy (most often Type 1 diabetes), but other presentations exist.
| IPEX syndrome | |
|---|---|
| Other names | Autoimmune enteropathy type 1 |
| IPEX syndrome is inherited via X-linked recessive | |
| Specialty | Immunology |
| Symptoms | Lymphadenopathy |
| Causes | FOXP3 gene mutation |
| Diagnostic method | Family history, Genetic test |
| Treatment | TPN(nutritional purpose), Cyclosporin A and FK506, Bone marrow transplant |
IPEX is caused by mutations in the gene FOXP3, which encodes transcription factor forkhead box P3 (FOXP3). FOXP3 is widely considered to be the master regulator of the regulatory T cell (Treg) lineage. FOXP3 mutation can lead to the dysfunction of CD4+ Tregs. In healthy people, Tregs maintain immune homeostasis. When there is a deleterious FOXP3 mutation, Tregs do not function properly and cause autoimmunity.
IPEX onset usually happens in infancy. If left untreated, it is often fatal by the age of 2 or 3. A bone marrow transplant is generally considered the best treatment option. IPEX exclusively affects males and is inherited in an X-linked recessive manner; female carriers of pathogenic FOXP3 mutations do not have symptoms and no female cases are known.