Interleukin-1 receptor-associated kinase 4
The IRAK4 gene encodes a kinase that is associated with interleukin-1 receptors and involved in NF-kappa-B transduction pathways. Mutations cause an autosomal dominant immunodeficiency, IRAK4 deficiency.
Genetests:
Related Diseases:
References:
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Ku CL et al. (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
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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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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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Lin SC et al. (2010) Helical assembly in the MyD88-IRAK4-IRAK2 complex in TLR/IL-1R signalling.
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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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Haraguchi S et al. (1998) Interleukin 12 deficiency associated with recurrent infections.
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Scanlan MJ et al. (1999) Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
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8. |
Suzuki N et al. (2002) Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4.
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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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10. |
Picard C et al. (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency.
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11. |
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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12. |
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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13. |
Suzuki N et al. (2006) A critical role for the innate immune signaling molecule IRAK-4 in T cell activation.
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14. |
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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15. |
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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Update: Aug. 14, 2020