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Up to: Familial severe combined immunodeficiency · T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Immunodeficiency 18

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

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