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Immunodeficiency 18
MONDO:0014278Immunodeficiency-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.
Also known as: CD3-Epsilon deficiency, IMD18, immunodeficiency 18, immunodeficiency 18, SCID variant, immunodeficiency 18, Severe combined immunodeficiency variant, immunodeficiency type 18
16 clinical trials for this condition and its sub-types.
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