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IRAK4 deficiency

Wednesday 20 April 2011

Definition: Deiciency of interleukin-1 receptor-associated kinase 4 (IRAK4).


- recurrent bacterial infections

  • Gram-positive Streptococcus pneumoniae
  • Staphylococcus aureus

- recurring fungal infections

  • poor inflammatory response
  • extracellular, pyogenic bacteria infections


- IRAK4 deficiency by germline mutations in the IRAK4 gene (MIM.606883)

See also



- Lavine E, Somech R, Zhang JY, Puel A, Bossuyt X, Picard C, Casanova JL, Roifman CM. Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency. J Allergy Clin Immunol. 2007 Jun 1; PMID: 17544092

- Day, N.; Tangsinmankong, N.; Ochs, H.; Rucker, R.; Picard, C.; Casanova, J.-L.; Haraguchi, S.; Good, R. : Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. J. Pediat. 144: 524-526, 2004. PMID : 15069404

- Picard, C.; Puel, A.; Bonnet, M.; Ku, C.-L.; Bustamante, J.; Yang, K.; Soudais, C.; Dupuis, S.; Feinberg, J.; Fieschi, C.; Elbim, C.; Hitchcock, R.; and 18 others : Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299: 2076-2079, 2003. PubMed ID : 12637671