Gene: IRAK4

Alternate names for this Gene: IMD67|IPD1|IRAK-4|NY-REN-64|REN64

Gene Summary: This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q12

Description of this Gene: interleukin 1 receptor associated kinase 4

Type of Gene: protein-coding

rs4251583 in IRAK4 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs114951157 in IRAK4 gene and IRAK4 Deficiency PMID 21057262 2010 Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

PMID 19663824 2009 Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency.

PMID 17893200 2007 Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

PMID 23538514 2013 Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.

PMID 26472314 2015 PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.

PMID 25344726 2014 A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.

PMID 12637671 2003 Pyogenic bacterial infections in humans with IRAK-4 deficiency.

PMID 20621347 2010 Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients.

PMID 12925671 2003 Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.

rs4251583 in IRAK4 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4251583 in IRAK4 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4251583 in IRAK4 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4251583 in IRAK4 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4251583 in IRAK4 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.