IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) is a rare disease linked to the dysfunction of the transcriptional activator FoxP3.
It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity. The disorder manifests with psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies (overlapping with those seen in APECED syndrome), and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.
This autoimmunity is called IPEX and it is the attack from the body's own immune system against the body's own tissues and organs. Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs, insulin dependent diabetes, eczema, food allergies, and infections. There has been limited success in treating the syndrome by bone marrow transplantation.
Famous quotes containing the word syndrome:
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—Jean Baker Miller (20th century)