IPEX syndrome
| IPEX syndrome | |
|---|---|
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| IPEX syndrome is inherited via X-linked recessive | |
| Classification and external resources | |
| Specialty | immunology |
| ICD-10 | E31.0 |
| OMIM | 304790 |
| DiseasesDB | 33417 |
| GeneReviews | |
| Orphanet | 37042 |
IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity. The disorder manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies , and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid. Management for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome has seen limited success in treating the syndrome by bone marrow transplantation.
Some of the symptoms and signs of IPEX syndrome are the following:
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is inherited in males via an x-linked recessive manner. Apparently the FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of this condition.
This autoimmunity called IPEX is an 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,and insulin dependent diabetes
This condition indicates the loss of CD4+CD25+ T regulatory cells, and express the transcription factor Foxp3. Foxp3 decrease is a consequence of unchecked T cell activation, which is secondary to loss of regulatory T cells.
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