Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

IgG-Fc-Rezeptor III-A mit geringer Affinität

Das FCGR3A-Gen kodiert einen Rezeptor für den Fc-Anteil des IgG. Die Bindung ist für die Entwicklung einer normalen Immunantwort essentiell. Deshalb führen Mutationen zu autosomal rezessivem Immundefizit vom Typ 20.


Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Immundefekt 20



Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).


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.


Grier JT et al. (2012) Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.


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.


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.


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.


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.


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.


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.


Bodman-Smith MD et al. (2000) Decreased expression of FcgammaRIII (CD16) by gammadelta T cells in patients with rheumatoid arthritis.


Pinheiro da Silva F et al. (2007) CD16 promotes Escherichia coli sepsis through an FcR gamma inhibitory pathway that prevents phagocytosis and facilitates inflammation.


Robinson JI et. al. (2012) Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.


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.


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.


Wang TT et al. (2017) IgG antibodies to dengue enhanced for FcγRIIIA binding determine disease severity.


NCBI article

NCBI 2214 [^]

OMIM.ORG article

Omim 146740 [^]
Update: 9. Mai 2019