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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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007064
MHC class II deficiency
MONDO:0008855
reticular dysgenesis
MONDO:0009973
T-B+ severe combined immunodeficiency due to gamma chain deficiency
MONDO:0010315
T-B+ severe combined immunodeficiency due to JAK3 deficiency
MONDO:0010938
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
MONDO:0011086