Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Zytotoxisches T-lymphocyten-Protein 4

Das CTLA4-Gen kodiert ein Protein, welches in die Signaltransduktion der T-Lymphozyten eingebunden ist. Mutationen führen zum autosomal dominanten autoimmun-lymphoproliferativem Syndrom 5.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autoimmun-lymphoproliferatives Syndrom 5
CTLA4
Suszeptibilität für Zöliakie 03
CTLA4
Suszeptibilität für Typ 1 Diabetes 12
CTLA4

Referenzen:

1.

Buonavista N et al. (1992) Molecular linkage of the human CTLA4 and CD28 Ig-superfamily genes in yeast artificial chromosomes.

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2.

Howard TA et al. (1991) Cd28 and Ctla-4, two related members of the Ig supergene family, are tightly linked on proximal mouse chromosome 1.

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3.

Harper K et al. (1991) CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequence, message expression, gene structure, and chromosomal location.

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4.

Dariavach P et al. (1988) Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains.

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5.

Allison JP et al. (1995) The Yin and Yang of T cell costimulation.

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6.

Waterhouse P et al. (1995) Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4.

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7.

Linsley PS et al. (1995) Binding stoichiometry of the cytotoxic T lymphocyte-associated molecule-4 (CTLA-4). A disulfide-linked homodimer binds two CD86 molecules.

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8.

Shahinian A et al. (1993) Differential T cell costimulatory requirements in CD28-deficient mice.

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9.

Nisticò L et al. (1996) The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry.

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10.

Reiser H et al. (1996) Costimulatory B7 molecules in the pathogenesis of infectious and autoimmune diseases.

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11.

Marron MP et al. (1997) Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups.

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12.

Donner H et al. (1997) Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease.

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13.

Sayegh MH et al. (1998) The role of T-cell costimulatory activation pathways in transplant rejection.

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14.

Djilali-Saiah I et al. (1998) CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.

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15.

Abrams JR et al. (1999) CTLA4Ig-mediated blockade of T-cell costimulation in patients with psoriasis vulgaris.

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16.

Heward JM et al. (1999) The development of Graves' disease and the CTLA-4 gene on chromosome 2q33.

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17.

Vaidya B et al. (1999) Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy.

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18.

Ling V et al. (1999) Complete sequence determination of the mouse and human CTLA4 gene loci: cross-species DNA sequence similarity beyond exon borders.

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19.

Magistrelli G et al. (1999) A soluble form of CTLA-4 generated by alternative splicing is expressed by nonstimulated human T cells.

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20.

Oaks MK et al. (2000) Cutting edge: a soluble form of CTLA-4 in patients with autoimmune thyroid disease.

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21.

Oaks MK et al. (2000) A native soluble form of CTLA-4.

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22.

Ostrov DA et al. (2000) Structure of murine CTLA-4 and its role in modulating T cell responsiveness.

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23.

Kouki T et al. (2000) CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease.

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24.

Naluai AT et al. (2000) The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders.

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25.

Gozalo-Sanmillan S et al. (2001) Cutting edge: two distinct mechanisms lead to impaired T cell homeostasis in Janus kinase 3- and CTLA-4-deficient mice.

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26.

Rau H et al. (2001) The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus.

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27.

Schwartz JC et al. (2001) Structural basis for co-stimulation by the human CTLA-4/B7-2 complex.

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28.

Stamper CC et al. (2001) Crystal structure of the B7-1/CTLA-4 complex that inhibits human immune responses.

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29.

Tomer Y et al. (2001) CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production.

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30.

Kinjo Y et al. (2002) Remission of Graves' hyperthyroidism and A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte-associated molecule-4 gene.

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31.

Grohmann U et al. (2002) CTLA-4-Ig regulates tryptophan catabolism in vivo.

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32.

Hudson LL et al. (2002) CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region.

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33.

Bour-Jordan H et al. (2003) CTLA-4 regulates the requirement for cytokine-induced signals in T(H)2 lineage commitment.

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34.

Lohmueller KE et al. (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.

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35.

Ueda H et al. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.

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36.

Fallarino F et al. (2003) Modulation of tryptophan catabolism by regulatory T cells.

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37.

Wang PW et al. (2004) Cytotoxic T lymphocyte-associated molecule-4 polymorphism and relapse of Graves' hyperthyroidism after antithyroid withdrawal.

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38.

Barreto M et al. (2004) Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.

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39.

van Belzen MJ et al. (2004) CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.

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40.

Zalloua PA et al. (2004) Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.

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41.

Thio CL et. al. (2004) Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.

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42.

Hunt KA et al. (2005) A common CTLA4 haplotype associated with coeliac disease.

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43.

Lee YH et al. (2005) CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis.

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44.

Zhernakova A et al. (2005) CTLA4 is differentially associated with autoimmune diseases in the Dutch population.

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45.

Schneider H et al. (2006) Reversal of the TCR stop signal by CTLA-4.

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46.

Wang PW et al. (2007) Cytotoxic T lymphocyte-associated molecule-4 gene polymorphism and hyperthyroid Graves' disease relapse after antithyroid drug withdrawal: a follow-up study.

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47.

Kavvoura FK et al. (2007) Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis.

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48.

Kaufmann DE et al. (2007) Upregulation of CTLA-4 by HIV-specific CD4+ T cells correlates with disease progression and defines a reversible immune dysfunction.

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49.

Wing K et al. (2008) CTLA-4 control over Foxp3+ regulatory T cell function.

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50.

Qureshi OS et al. (2011) Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4.

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51.

Chu X et al. (2011) A genome-wide association study identifies two new risk loci for Graves' disease.

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52.

Chain JL et al. (2013) Impaired function of CTLA-4 in the lungs of patients with chronic beryllium disease contributes to persistent inflammation.

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53.

Vom Berg J et al. (2013) Intratumoral IL-12 combined with CTLA-4 blockade elicits T cell-mediated glioma rejection.

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54.

Kuehn HS et al. (2014) Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

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55.

Schubert D et al. (2014) Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

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56.

Lo B et al. (2015) AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

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57.

Vétizou M et al. (2015) Anticancer immunotherapy by CTLA-4 blockade relies on the gut microbiota.

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Update: 17. Oktober 2019