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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

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

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.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss IRAK-4 deficiency. Click on the link to view a sample search on this topic.
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.