Immunodeficiency 18
Immunodeficiency 18
Definition
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.
Also known as CD3-Epsilon deficiency, IMD18, immunodeficiency 18, immunodeficiency 18, SCID variant, immunodeficiency 18, Severe combined immunodeficiency variant, immunodeficiency type 18 — per MONDO