Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Rezeptor Typ 2

Das CR2-gen kodiert den Komplement-Rezeptor Typ 2 der auf B-Lymphozyten anzutreffen ist und dort sowohl für die Infektion des Epstein-Barr-Virus wie auch entwicklung einer Immunantwort verantwortlich ist. Mutationen führen zur autosomal rezessiven variablen Immundefizienz Typ 7 und zu einer Anfälligkeit gegenüber der Entwicklung von Autoimmunerkrankungen, wie Lupus erythematodes.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

1.

Rodriguez de Cordoba S et al. (1985) Human genes for three complement components that regulate the activation of C3 are tightly linked.

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2.

Weis JH et al. (1987) A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.

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3.

Fairweather D et. al. (2006) Complement receptor 1 and 2 deficiency increases coxsackievirus B3-induced myocarditis, dilated cardiomyopathy, and heart failure by increasing macrophages, IL-1beta, and immune complex deposition in the heart.

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4.

Yefenof E et. al. (1976) Surface markers on human B and T-lymphocytes. IX. Two-color immunofluorescence studies on the association between ebv receptors and complement receptors on the surface of lymphoid cell lines.

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5.

Moore MD et. al. (1987) Molecular cloning of the cDNA encoding the Epstein-Barr virus/C3d receptor (complement receptor type 2) of human B lymphocytes.

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6.

Rodriguez de Cordoba S et. al. (1986) Quantitative variations of the C3b/C4b receptor (CR1) in human erythrocytes are controlled by genes within the regulator of complement activation (RCA) gene cluster.

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7.

Weis JJ et. al. (1984) Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.

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8.

Szakonyi G et. al. (2001) Structure of complement receptor 2 in complex with its C3d ligand.

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9.

Prota AE et. al. (2002) The crystal structure of human CD21: Implications for Epstein-Barr virus and C3d binding.

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10.

Asokan R et. al. (2006) Characterization of human complement receptor type 2 (CR2/CD21) as a receptor for IFN-alpha: a potential role in systemic lupus erythematosus.

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11.

Wu H et. al. (2007) Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.

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12.

Barrington RA et. al. (2009) Uncoupling CD21 and CD19 of the B-cell coreceptor.

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13.

Thiel J et. al. (2012) Genetic CD21 deficiency is associated with hypogammaglobulinemia.

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