Omenn syndrome

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Omenn syndrome
ICD-10 D81.2 (ILDS D81.210)
OMIM 603554
DiseasesDB 32676
eMedicine ped/1640 

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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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.

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 poor 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:

Genetics

Omenn syndrome has an autosomal recessive pattern of inheritance.

Treatment

Omenn syndrome is sometimes treated with bone marrow transplantation and cord blood stem cells.

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References

  1. 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:10.1034/j.1600-065X.2000.17818.x. PMID 11213808.

de:Morbus Omenn



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