Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.

Anna Villa, Christina Sobacchi, Paulo Vezzoni

Department of Human Genome and Multifactorial Disease, Institute of Biomedical Technology, Medical Research Council, Milan, Italy. villa@itba.mi.cbr.it

The Israel Medical Association journal : IMAJ 2002 Mar

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Severe combined immunodeficiencies represent a heterogeneous group of hereditary defects of the immune system that affect both T and B cells and whose etiology has only recently begun to be understood. A portion of these SCID patients bear a defect in either of the two recombination-activating genes, Rag-1 or Rag-2, while others have mutations in a newly identified gene, Artemis. Omenn syndrome is an unusual severe immunodeficiency with T cells but no B cells, and peculiar features also due to a defect in Rag-1 or Rag-2 genes. All these three forms are characterized by an impairment of the VDJ recombination, the process that insures the somatic diversification of immunoglobulin and T cell receptor-encoding genes. Recent findings have enabled us to better understand the pathophysiology of these three immunodeficiencies, which affect the V(D)J recombination process to a different extent and in different ways.

Citation

Anna Villa, Christina Sobacchi, Paulo Vezzoni. Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies. The Israel Medical Association journal : IMAJ. 2002 Mar;4(3):218-21