Omenn syndrome
From Wikipedia, the free encyclopedia
| Omenn syndrome Classification and external resources |
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| ICD-10 | D81.2 (ILDS D81.210) |
|---|---|
| OMIM | 603554 |
| DiseasesDB | 32676 |
| eMedicine | ped/1640 |
Omenn syndrome is an autosomal recessive severe combined immunodeficiency[1] associated with mutations in the recombination activating genes, affecting both B-cells and T-cells.
Contents |
[edit] Symptoms
Symptoms include:
- Desquamation (shedding the outer layers of skin)
- Chronic diarrhea
- Erythroderma (widespread reddening of the skin)
- Hepatosplenomegaly (simultaneous enlargement of both the liver and the spleen)
- Leukocytosis (elevation of the white blood cell count)
- Lymphadenopathy (swelling of one or more lymph nodes)
- Persistent bacterial infections
- Elevated serum IgE
[edit] Genetics
[edit] Treatment
Omenn syndrome is sometimes treated with bone marrow transplantation and cord blood stem cells.
[edit] External links
[edit] References
- ^ Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P (2000). "The genetic and biochemical basis of Omenn syndrome". Immunol Rev. 178: 64–74. doi:. PMID 11213808.
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