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IRAK4 deficiency
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Overview
IRAK-4 deficiency is a rare inherited primary immunodeficiency that is characterized by severe recurrent pyogenic bacterial infections. 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 a gene called IRAK4 (interleukin 1 receptor-associated kinase 4). [1] The IRAK4 gene provides instructions for making an enzyme that is crucial for protective immunity against specific bacterial infections. [2]
References
- Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HC, Yang K et al.. The Journal of Experimental Medicine. September 24, 2007. http://www.jem.org/cgi/content/full/204/10/2407. Accessed June 4, 2008.
- Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K et al.. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. March 13, 2003.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on IRAK4 deficiency. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss IRAK4 deficiency. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss IRAK4 deficiency. Click on the link to go to OMIM and review these resources.