Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

CD40-Ligand

Das vom CD40LG Gen kodierte Protein ist der Ligand des CD40 auf den T-Lyphozyten. Die kopplung des CD40 auf den B-Lymphozyten mit dem CD40LG ist für eine reife Immunantwort insbesondere dem Klassenwechsel unerlässlich. Deshalb produzieren Patienten exzessiv das Immunglobulin IgM und zeigen eine erhöhte Infektanfälligkeit.

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 1
CD40LG

Referenzen:

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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