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Cytotoxic T-lymphocyte protein 4

The CTLA4 gene encodes a protein that is involved in signal transduction between T-lymphocytes. Mutations cause autosomal dominant autoimmune lymphoproliferative syndrome 5 and are associated with susceptibility to various autoimmune diseases.

Genetests:

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

Related Diseases:

Autoimmune lymphoproliferative syndrome 5
CTLA4
Susceptibility to celiac disease 03
CTLA4
Susceptibility to type 1 diabetes 12
CTLA4

References:

1.

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

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2.

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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3.

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

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4.

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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5.

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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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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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21.

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

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22.

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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23.

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

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24.

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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25.

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

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26.

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

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27.

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

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28.

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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29.

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

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30.

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

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31.

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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32.

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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33.

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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34.

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

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35.

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

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36.

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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37.

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

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38.

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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39.

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

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40.

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

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41.

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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42.

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

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43.

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

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44.

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

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45.

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

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46.

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

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47.

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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48.

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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49.

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

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50.

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

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51.

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

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52.

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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53.

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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54.

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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55.

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

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56.

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

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57.

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

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Update: Aug. 14, 2020
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