Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The IL10RB 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 25. Also, a genetic variant predisposes to heptitis B virus persistence.
| 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 |
Interleukin 10 receptor deficiency
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IL10RA
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IL10RB
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Inflammatory bowel disease 25
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IL10RB
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Inflammatory bowel disease 28
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IL10RA
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| 1. |
Lutfalla G et. al. (1993) A new member of the cytokine receptor gene family maps on chromosome 21 at less than 35 kb from IFNAR. 
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| 2. |
Cheng S et. al. (1993) GART, SON, IFNAR, and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16.
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| 3. |
Gibbs VC et. al. (1997) CRF2-4: isolation of cDNA clones encoding the human and mouse proteins.
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| 4. |
Kotenko SV et. al. (1997) Identification and functional characterization of a second chain of the interleukin-10 receptor complex.
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| 5. |
Spencer SD et. al. (1998) The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor.
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| 6. |
Sheppard P et. al. (2003) IL-28, IL-29 and their class II cytokine receptor IL-28R.
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| 7. |
Sheikh F et. al. (2004) Cutting edge: IL-26 signals through a novel receptor complex composed of IL-20 receptor 1 and IL-10 receptor 2.
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| 8. |
Frodsham AJ et. al. (2006) Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.
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| 9. |
Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
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| 10. |
Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
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| 11. |
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