Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CD40 ligand

The CD40LG gene encodes the CD40 ligand on T lymphocytes. The coupling of CD40 on B lymphocytes and CD40 is essential to isoforom switich in maturation of the immune response. Patients therefore produce excessive amount of IgM and show clinically an increased susceptibility to infections. Mutations cause x-linked recessive Hyper IgM syndrome 1.

Genetests:

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

Related Diseases:

Hyper-IgM syndrome 1
CD40LG

References:

1.

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

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2.

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

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3.

Graf D et. al. (1992) Cloning of TRAP, a ligand for CD40 on human T cells.

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4.

Hollenbaugh D et. al. (1992) The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity.

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5.

Padayachee M et. al. (1992) Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.

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6.

Ramesh N et. al. (1994) Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

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7.

Kraakman ME et. al. (1995) Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.

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8.

Gauchat JF et. al. (1993) Human CD40-ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE production.

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9.

Aruffo A et. al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

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10.

Korthäuer U et. al. (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

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11.

Allen RC et. al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

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12.

Macchi P et. al. (1995) Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

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13.

Kroczek RA et. al. (1994) Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

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14.

Pilia G et. al. (1994) Human CD40L gene maps between DXS144E and DXS300 in Xq26.

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15.

DiSanto JP et. al. (1993) CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.

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16.

Padayachee M et. al. (1993) Mapping of the X linked form of hyper IgM syndrome (HIGM1)

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17.

Lin Q et. al. (1996) A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

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18.

Seyama K et. al. (1996) Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: its application to prenatal screening for X-linked hyper-IgM syndrome.

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19.

Katz F et. al. (1996) Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

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20.

Nonoyama S et. al. (1997) Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.

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21.

Seyama K et. al. (1998) Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

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22.

Tan J et. al. (2002) Role of CD40 ligand in amyloidosis in transgenic Alzheimer's mice.

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23.

Straw AD et. al. (2003) CD154 plays a central role in regulating dendritic cell activation during infections that induce Th1 or Th2 responses.

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24.

Heeschen C et. al. (2003) Soluble CD40 ligand in acute coronary syndromes.

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25.

Imadome K et. al. (2003) CD40 ligand is a critical effector of Epstein-Barr virus in host cell survival and transformation.

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26.

Varo N et. al. (2003) Soluble CD40L: risk prediction after acute coronary syndromes.

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27.

Cipollone F et. al. (2003) Preprocedural level of soluble CD40L is predictive of enhanced inflammatory response and restenosis after coronary angioplasty.

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28.

McGregor CM et. al. (2004) CD154 is a negative regulator of autoaggressive CD8+ T cells in type 1 diabetes.

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29.

Onouchi Y et. al. (2004) CD40 ligand gene and Kawasaki disease.

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30.

Bossaller L et. al. (2006) ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells.

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31.

Apoil PA et. al. (2007) HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.

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32.

Lincecum JM et. al. (2010) From transcriptome analysis to therapeutic anti-CD40L treatment in the SOD1 model of amyotrophic lateral sclerosis.

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Update: Sept. 26, 2018