Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

IL17RA-Gen

Das IL17RA-Gen kodiert ein transmemranöses Protein, den Interleukin 17A-Rezeptor. Das Interleukin 17A spielt eine wichtige Rolle bei verschiedenen inflammatorischen und Autoimmunerkrankungen, wie Rheumatoid Arthritis. Mutationen sind für den autosomal rezessiven Immundefekt 51 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 51
IL17RA

Referenzen:

1.

Yao Z et al. (1995) Herpesvirus Saimiri encodes a new cytokine, IL-17, which binds to a novel cytokine receptor.

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2.

Yao Z et al. (1997) Molecular characterization of the human interleukin (IL)-17 receptor.

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3.

Footz TK et al. (2001) Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.

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4.

McAllister F et al. (2005) Role of IL-17A, IL-17F, and the IL-17 receptor in regulating growth-related oncogene-alpha and granulocyte colony-stimulating factor in bronchial epithelium: implications for airway inflammation in cystic fibrosis.

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5.

Tan W et al. (2006) IL-17 receptor knockout mice have enhanced myelotoxicity and impaired hemopoietic recovery following gamma irradiation.

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6.

Toy D et al. (2006) Cutting edge: interleukin 17 signals through a heteromeric receptor complex.

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7.

Maitra A et al. (2007) Distinct functional motifs within the IL-17 receptor regulate signal transduction and target gene expression.

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8.

Priebe GP et al. (2008) IL-17 is a critical component of vaccine-induced protection against lung infection by lipopolysaccharide-heterologous strains of Pseudomonas aeruginosa.

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9.

Kudva A et al. (2011) Influenza A inhibits Th17-mediated host defense against bacterial pneumonia in mice.

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10.

Puel A et al. (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

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11.

Freches D et al. (2013) Mice genetically inactivated in interleukin-17A receptor are defective in long-term control of Mycobacterium tuberculosis infection.

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12.

Lévy R et al. (2016) Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

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Update: 14. August 2020
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