IRAK4 Deficiency

Children with recurring and often invasive infections with Streptococcus pneumoniae, Staphylococcus aureus and other pyogenic bacteria can be suspected of having a congenital deficiency in IRAK4, an intracellular kinase associated with Toll-Like Receptor and Interleukin-1 Receptor pathways. Febrile response is reduced and failure of leukocyte response to bacterial endotoxin and Interleukin 1 can be demonstrated in vitro. Leukocyte counts are normal. Infections can be peripheral (e.g. tonsillitis, otitis media) or invasive (e.g. meningitis, arthritis, abdominal abscess) and may be life-threatening. In surviving patients the susceptibility decreases with age and the risk of invasive infections appears to disappear by adolescence or adulthood.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier detection or diagnosis in asymptomatic relatives
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs


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  1. Picard,C. et al., Pyogenic bacterial infections in humans with IRAK4 deficiency; Science 299: 2076, 2003
  2. Ku. C-L. et al., Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity; JEM 204: 2407, 2007
  3. Ku, C-L, et al., IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease; J. Med Genet 44:16-23, 2007