Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

B cell surface antigen CD40

The CD40 gene encodes a TNF receptor located on B lymphocytes. Coupling of CD40 and the appropriate ligand CD40LG on T lymphocytes is essential to the maturation of B lymphocytes to produce a proper immune response. Mutations cause autosomal recessive hyper-IgM syndrome 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyper-IgM syndrome 3
CD40

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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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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27.

NCBI article

NCBI 958 [^]
28.

OMIM.ORG article

Omim 109535 [^]
29.

Orphanet article

Orphanet ID 119244 [^]
30.

Wikipedia article

Wikipedia EN (CD40_(protein)) [^]
Update: April 29, 2019