immunodeficiency 20

Term ID

DOID:0111941

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. https://pubmed.ncbi.nlm.nih.gov/23006327/

References

• MIM:615707
• ORDO:437552

Ontology

Human Disease   ( DOID:0111941 )