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Center for Nephrology and Metabolic Disorders
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Interleukin-2 receptor subunit alpha

The IL2RA gene encodes a component of an interleukin receptor. Mutations cause autosomal recessive immunodeficiency 41 and are associated with type 1 diabetes.

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:

Immunodeficiency 41
IL2RA
Susceptibility to type 1 diabetes 10
IL2RA

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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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21.

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

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22.

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

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23.

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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24.

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

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25.

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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26.

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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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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Update: Aug. 14, 2020
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