Condition: IRAK4 Deficiency
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.