Term Name: | immunodeficiency 20 |
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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 ) |