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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.

Overview

What is IRAK-4 deficiency?

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

How is IRAK-4 deficiency diagnosed?

What is IRAK-4 deficiency?

IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment may include intravenous immunoglobulin therapy (IVIG), taking antibiotics before an infection develops, and vaccines. Althought the infections can be life-threatening, they tend to occur less often as a person gets older.[1][2]
Last updated: 9/20/2013

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.[3][2]
Last updated: 9/20/2013

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.[3] Genetic testing is also available for IRAK-4 deficiency and can be used to confirm the diagnosis.[1] 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. 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.
  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.
  3. 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.


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.