immunodeficiency 20 (DOID:0111941)
Alliance: disease page
Synonyms: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; CD16 deficiency; IMD20
Alt IDs: OMIM:615707, ORDO:437552
Definition: A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.