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IRAK4 deficiency
Wednesday 20 April 2011
Definition: Deiciency of interleukin-1 receptor-associated kinase 4 (IRAK4).
Synopsis
recurrent bacterial infections
- Gram-positive Streptococcus pneumoniae
- Staphylococcus aureus
recurring fungal infections
- poor inflammatory response
- extracellular, pyogenic bacteria infections
Etiology
IRAK4 deficiency by germline mutations in the IRAK4 gene (MIM.606883)
See also
IRAKs
References
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