Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interleukin-1-Rezeptor-assoziierte Kinase 4

Das IRAK4-Gen kodiert eine mit dem Interleukin-1-Rezeptor assoziierte Kinase des NF-kappa-B-Signalweges. Mutationen sind für den autosomal dominanten IRAK4-Mangel, einer Immunschwäche, 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:

Invasive Pneumokokken-Erkrankung 1
IRAK4
IRAK4-Mangel
IRAK4
Suszeptibilität für Typ 1 Diabetes 01
PTPN22

Referenzen:

1.

Ku CL et al. (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

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2.

Singh A et al. (2009) Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.

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3.

Haraguchi S et al. (1998) Interleukin 12 deficiency associated with recurrent infections.

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4.

Scanlan MJ et al. (1999) Antigens recognized by autologous antibody in patients with renal-cell carcinoma.

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5.

Suzuki N et al. (2002) Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4.

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6.

Li S et al. (2002) IRAK-4: a novel member of the IRAK family with the properties of an IRAK-kinase.

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7.

Picard C et al. (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency.

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8.

Medvedev AE et al. (2003) Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.

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9.

Day N et al. (2004) Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses.

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10.

Yang K et al. (2005) Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses.

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11.

Suzuki N et al. (2006) A critical role for the innate immune signaling molecule IRAK-4 in T cell activation.

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12.

Davidson DJ et al. (2006) IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.

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13.

Hoarau C et al. (2007) TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

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14.

Ku CL et al. (2007) Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

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15.

Lin SC et al. (2010) Helical assembly in the MyD88-IRAK4-IRAK2 complex in TLR/IL-1R signalling.

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Update: 17. Oktober 2019