Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

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
FCGR3A

Referenzen:

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 external link
17.

OMIM.ORG article

Omim 146740 external link
Update: 14. August 2020
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