immunodeficiency 19 (DOID:0111972)
Alliance: disease page
Synonyms: CD3-delta deficiency; IMD19; SCID T cell-negative, B cell-positive, NK cell-positive; severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Alt IDs: OMIM:615617, UMLS_CUI:C3810147
Definition: A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.