IPEX syndrome
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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.[5]
IPEX syndrome | |
---|---|
Other names | Autoimmune enteropathy type 1[1] |
IPEX syndrome is inherited via X-linked recessive | |
Specialty | Immunology |
Symptoms | Lymphadenopathy[2] |
Causes | FOXP3 gene mutation[1] |
Diagnostic method | Family history, Genetic test[1] |
Treatment | TPN(nutritional purpose), Cyclosporin A and FK506, Bone marrow transplant[3][4] |
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.[6][7] FOXP3 mutation can lead to the dysfunction of CD4+ Tregs. In healthy people, Tregs maintain immune homeostasis.[8] When there is a deleterious FOXP3 mutation, Tregs do not function properly and cause autoimmunity.[8][9]
IPEX onset usually happens in infancy. If left untreated, it is often fatal by the age of 2 or 3.[10][11] A bone marrow transplant is generally considered the best treatment option.[11] IPEX exclusively affects males and is inherited in an X-linked recessive manner;[1][2] female carriers of pathogenic FOXP3 mutations do not have symptoms and no female cases are known.[4]