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

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:

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:

Invasive pneumococcal disease 1
IRAK4
IRAK4 deficiency
IRAK4
Susceptibility to type 1 diabetes 01
PTPN22

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
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.

external link
9.

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

external link
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.

external link
11.

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

external link
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.

external link
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.

external link
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.

external link
15.

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

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues