Invasive Pneumococcal Disease

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


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  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