Human genes for immunodeficiency 20
Immunodeficiency 20 [DOID:0111941]
A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3.
Synonyms: immunodeficiency 20, DOID:0111941, autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity, autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, CD16 deficiency ...