The genetic and biochemical basis of Omenn syndrome.

  title={The genetic and biochemical basis of Omenn syndrome.},
  author={Sandro S. Santagata and Anna Villa and Christina Sobacchi and Patricia Cort{\'e}s and Paulo Vezzoni},
  journal={Immunological reviews},
Omenn syndrome (OS) is a peculiar, autosomal recessive severe combined immunodeficiency (SCID) associated with early-onset, generalized, exudative erythrodermia; lymphoadenopathy; hepato- and splenomegaly; hypereosinophilia; elevated serum IgE; and normal to high activated, yet non-functional, oligoclonal T cells. Recent investigations have shown that the primum movens of all these puzzling features lies in a defect of the lymphoid-specific V(D)J recombination process. Abnormalities in both… CONTINUE READING
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