Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Interleukin-10 receptor subunit alpha

The IL10RA gene encodes a component of the interleukin 10 receptor which is involved in IL10 signal transduction. Mutations cause autosomal recessive IL10R-Deficiency wich presents as inflammatory bowel disease 28.

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:

Inflammatory bowel disease 28
IL10RA
Interleukin 10 receptor deficiency
IL10RA
IL10RB
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA

References:

1.

Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

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2.

Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

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3.

Zigmond E et. al. (2014) Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis.

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4.

Taniyama T et. al. (1995) The human interleukin-10 receptor gene maps to chromosome 11q23.3.

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5.

Liu Y et. al. (1994) Expression cloning and characterization of a human IL-10 receptor.

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6.

Ho AS et. al. (1993) A receptor for interleukin 10 is related to interferon receptors.

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7.

Tan JC et. al. (1993) Characterization of interleukin-10 receptors on human and mouse cells.

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8.

Gasche C et. al. (2003) Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.

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9.

Mao H et. al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

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10.
Update: Aug. 14, 2020
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