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Diseases

Genetic and Rare Diseases Information Center (GARD)

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IRAK-4 deficiency


Other Names for this Disease
  • Interleukin receptor-associated kinase deficiency
  • IRAK4 deficiency
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Symptoms


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What signs and symptoms are associated with IRAK-4 deficiency?

Individuals with IRAK-4 deficiency are at increased risk of developing infections by bacteria such as Str. penumoniae, Staph. aureus, and P. aeruginosa. Most people with IRAK-4 deficiency start to develop infections by age 2. The infections can be difficult to diagnose because signs of inflammation don't appear right away. Individuals with IRAK-4 deficiency do not develop infections caused by viruses, parasites, or fungus. The condition seems to improve with age.[1][2]
Last updated: 9/20/2013

References
  1. Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HC, Yang K et al. Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity. The Journal of Experimental Medicine. 10/01/2007; http://www.jem.org/cgi/content/full/204/10/2407. Accessed 9/20/2013.
  2. Picard C. Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency. Medicine (Baltimore). 11/2010; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103888/. Accessed 9/20/2013.