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immunodeficiency 20
Summary
- Synonym
-
- CD16 deficiency
- IMD20
- autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
- autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- 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.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111941
- Mondo Disease Ontology
- ORDO
- OMIM
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