Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The FCGR3A gene encodes a receptor for the Fc fragment of IgG. As binding to this receptor is essential to develop a proper immune response, mutations in that gene cause autosomal recessive immunodeficiency type 20.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II). 
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| 2. |
Wang TT et al. (2017) IgG antibodies to dengue enhanced for FcγRIIIA binding determine disease severity.
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| 3. |
Machado LR et al. (2012) Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.
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| 4. |
Robinson JI et. al. (2012) Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.
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| 5. |
Pinheiro da Silva F et al. (2007) CD16 promotes Escherichia coli sepsis through an FcR gamma inhibitory pathway that prevents phagocytosis and facilitates inflammation.
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| 6. |
Bodman-Smith MD et al. (2000) Decreased expression of FcgammaRIII (CD16) by gammadelta T cells in patients with rheumatoid arthritis.
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| 7. |
Koene HR et al. (1997) Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype.
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| 8. |
de Haas M et al. (1996) A triallelic Fc gamma receptor type IIIA polymorphism influences the binding of human IgG by NK cell Fc gamma RIIIa.
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| 9. |
Gessner JE et al. (1995) The human low affinity immunoglobulin G Fc receptor III-A and III-B genes. Molecular characterization of the promoter regions.
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| 10. |
Ravetch JV et al. (1989) Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions.
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| 11. |
Le Coniat M et al. (1990) The human genes for the alpha and gamma subunits of the mast cell receptor for immunoglobulin E are located on human chromosome band 1q23.
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| 12. |
Anderson P et al. (1990) Fc gamma receptor type III (CD16) is included in the zeta NK receptor complex expressed by human natural killer cells.
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| 13. |
Grier JT et al. (2012) Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.
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| 14. |
de Vries E et al. (1996) Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.
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| 15. |
Moraru M et al. (2012) Host genetic factors in susceptibility to herpes simplex type 1 virus infection: contribution of polymorphic genes at the interface of innate and adaptive immunity.
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| 16. |
NCBI article NCBI 2214
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| 17. |
OMIM.ORG article Omim 146740
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