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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is IRAK-4 deficiency diagnosed?

IRAK-4 deficiency can be diagnosed by very specific immune tests to determine if a person has an impaired response to most Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) agonists.[1] Genetic testing is also available for IRAK-4 deficiency and can be used to confirm the diagnosis.[2] The Genetic Testing Registry provides information on available genetic test for this condition. Because many laboratories do not accept direct contact from patients, we recommend that you work with your health care provider if you are interested in genetic testing.
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. Fischer A. Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency. Orphanet. 11/2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70592. Accessed 9/20/2013.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Interleukin receptor-associated kinase deficiency
  • IRAK4 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.