Term Name: immunodeficiency 20
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
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.
Ontology: Human Disease [DOID:0111941]   ( DOID:0111941 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease