Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

B Zell-Oberflächenantigen CD40

Das CD40-Gen kodiert eine TNF Rezeptor auf B-Lymphozyten. Die Kopplung dieses Rezeptors mit dem entsprechenden Liganden CD40LG auf T-Lymphozyten ist für die Reifung von B-Lymphozyten und damit für eine ausreichende Immunantwort verantwortlich.

Diagnostik:

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

Krankheiten:

Hyper-IgM-Syndrom 3
CD40

Referenzen:

1.

Stamenkovic I et. al. (1989) A B-lymphocyte activation molecule related to the nerve growth factor receptor and induced by cytokines in carcinomas.

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2.

Lafage-Pochitaloff M et. al. (1994) Localization of the human CD40 gene to chromosome 20, bands q12-q13.2.

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3.

Castigli E et. al. (1994) CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

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4.

Kawabe T et. al. (1994) The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation.

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5.

Asimakopoulos FA et. al. (1996) The human CD40 gene lies within chromosome 20q deletions associated with myeloid malignancies.

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6.

Kato K et. al. (1998) Gene transfer of CD40-ligand induces autologous immune recognition of chronic lymphocytic leukemia B cells.

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7.

Mach F et. al. (1998) Reduction of atherosclerosis in mice by inhibition of CD40 signalling.

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8.

Tan J et. al. (1999) Microglial activation resulting from CD40-CD40L interaction after beta-amyloid stimulation.

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9.

van Kooten C et. al. (2000) CD40-CD40 ligand.

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10.

Schönbeck U et. al. (2001) The CD40/CD154 receptor/ligand dyad.

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11.

Ferrari S et. al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

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12.

Erickson LD et. al. (2002) Short-circuiting long-lived humoral immunity by the heightened engagement of CD40.

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13.

Becker T et. al. (2002) CD40, an extracellular receptor for binding and uptake of Hsp70-peptide complexes.

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14.

Kutukculer N et. al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

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15.

Inwald DP et. al. (2003) CD40 is constitutively expressed on platelets and provides a novel mechanism for platelet activation.

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16.

Brodeur SR et. al. (2003) C4b-binding protein (C4BP) activates B cells through the CD40 receptor.

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17.

Trompouki E et. al. (2003) CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.

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18.

Harding SA et. al. (2004) Upregulation of the CD40/CD40 ligand dyad and platelet-monocyte aggregation in cigarette smokers.

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19.

Pasare C et. al. (2005) Control of B-cell responses by Toll-like receptors.

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20.

Mazzolari E et. al. (2007) First report of successful stem cell transplantation in a child with CD40 deficiency.

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21.

Peters AL et. al. (2008) A novel polymorphism of the human CD40 receptor with enhanced function.

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22.

Matsuzawa A et. al. (2008) Essential cytoplasmic translocation of a cytokine receptor-assembled signaling complex.

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23.

Kraus ZJ et. al. (2009) TRAF5 is a critical mediator of in vitro signals and in vivo functions of LMP1, the viral oncogenic mimic of CD40.

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24.

Lanzi G et. al. (2010) Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

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25.

Beatty GL et. al. (2011) CD40 agonists alter tumor stroma and show efficacy against pancreatic carcinoma in mice and humans.

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26.

Li F et. al. (2011) Inhibitory Fcγ receptor engagement drives adjuvant and anti-tumor activities of agonistic CD40 antibodies.

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