KEGG   VARIANT: 51135v1
Entry
51135v1                      Variant                               
Name
IRAK4 mutation
Type
Loss of function
Gene
IRAK4  interleukin 1 receptor associated kinase 4 [KO:K04733]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607676
Network
nt06517  TLR signaling
Disease
H00096  Defects of toll-like receptor signaling
Reference
PMID:19414794
  Authors
Singh A, Zarember KA, Kuhns DB, Gallin JI
  Title
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.
  Journal
J Immunol 182:6410-7 (2009)
DOI:10.4049/jimmunol.0802512
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