Omenn syndrome
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| Omenn syndrome | |
| Classification and external resources | |
| 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 (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
Contents |
[edit] Symptoms
The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto-reactive and cause the GVHD phenotype.
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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