Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interleukin-2-Rezeptor Untereinheit alpha

Das IL2RA-Gen kodiert einen Interleukin-Rezeptor. Mutationen sind für den autosomal rezessiven Immundefekt 41 und eine Anfälligkeit für Typ 1 Diabetes verantwortlich.

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:

Immundefekt 41
IL2RA
Suszeptibilität für Typ 1 Diabetes 10
IL2RA

Referenzen:

1.

Pasare C et al. (2003) Toll pathway-dependent blockade of CD4+CD25+ T cell-mediated suppression by dendritic cells.

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2.

Powrie F et al. (2003) Immunology. Regulating the regulators.

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3.

Webb GC et al. (1990) Mapping the gene for murine T-cell growth factor, Il-2, to bands B-C on chromosome 3 and for the alpha chain of the IL2-receptor, Il-2ra, to bands A2-A3 on chromosome 2.

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4.

Leonard WJ et al. (1985) Structure of the human interleukin-2 receptor gene.

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5.

Ishida N et al. (1985) Molecular cloning and structure of the human interleukin 2 receptor gene.

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6.

Greene WC et al. (1986) The human interleukin-2 receptor: normal and abnormal expression in T cells and in leukemias induced by the human T-lymphotropic retroviruses.

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7.

Kondo S et al. () Expression of functional human interleukin-2 receptor in mouse T cells by cDNA transfection.

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8.

Hatakeyama M et al. (1986) Intracytoplasmic phosphorylation sites of Tac antigen (p55) are not essential for the conformation, function, and regulation of the human interleukin 2 receptor.

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9.

Tsudo M et al. (1986) Demonstration of a non-Tac peptide that binds interleukin 2: a potential participant in a multichain interleukin 2 receptor complex.

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10.

Robb RJ et al. (1988) Structure-function relationships for the interleukin 2 receptor: location of ligand and antibody binding sites on the Tac receptor chain by mutational analysis.

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11.

Ferrari S et al. (1987) The gene encoding human vimentin is located on the short arm of chromosome 10.

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12.

Leonard WJ et al. (1985) Localization of the gene encoding the human interleukin-2 receptor on chromosome 10.

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13.

Hatakeyama M et al. () Reconstitution of functional receptor for human interleukin-2 in mouse cells.

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14.

Leonard WJ et al. () Molecular cloning and expression of cDNAs for the human interleukin-2 receptor.

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15.

Nikaido T et al. () Molecular cloning of cDNA encoding human interleukin-2 receptor.

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16.

None (1984) The interleukin-2 receptor gene is cloned.

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17.

Cosman D et al. () Cloning, sequence and expression of human interleukin-2 receptor.

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18.

Leonard WJ et al. (1983) Characterization of the human receptor for T-cell growth factor.

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19.

Urdal DL et al. (1984) Purification and chemical characterization of the receptor for interleukin 2 from activated human T lymphocytes and from a human T-cell lymphoma cell line.

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20.

Ihle JN et al. (1995) Jaks and Stats in signaling by the cytokine receptor superfamily.

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21.

Asano M et al. (1996) Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation.

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22.

Sharfe N et al. (1997) Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.

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23.

None (2001) Certified professionals: CD4(+)CD25(+) suppressor T cells.

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24.

Lamaze C et al. (2001) Interleukin 2 receptors and detergent-resistant membrane domains define a clathrin-independent endocytic pathway.

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25.

Hori S et al. (2003) Control of regulatory T cell development by the transcription factor Foxp3.

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26.

Vella A et al. (2005) Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.

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27.

Rickert M et al. (2005) The structure of interleukin-2 complexed with its alpha receptor.

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28.

Wang X et al. (2005) Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.

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29.

Caudy AA et al. (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

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30.

Lowe CE et al. (2007) Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

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31.

Goudy K et al. (2013) Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.

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32.

Bezrodnik L et al. (2014) Follicular bronchiolitis as phenotype associated with CD25 deficiency.

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33.

Li J et al. (2016) EBI2 augments Tfh cell fate by promoting interaction with IL-2-quenching dendritic cells.

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34.

Simeonov DR et al. (2017) Discovery of stimulation-responsive immune enhancers with CRISPR activation.

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Update: 17. Oktober 2019