IRAK4 deficiency
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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
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Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HC, Yang K et al.. . The Journal of Experimental Medicine. September 24, 2007;:. Available at: http://www.jem.org/cgi/content/full/204/10/2407. June 4, 2008.
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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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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.
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Orphanet is a database dedicated to 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.
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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.
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International Society for Infectious Diseases
1330 Beacon Street, Suite 228
Brookline MA 02446
Telephone: 617-277-0551
Fax: 617-278-9113
E-mail: info@isid.org
Web site: http://www.isid.org
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National Foundation for Infectious Diseases
4733 Bethesda Avenue
Suite 750
Bethesda, Maryland 20814
Telephone: 301-656-0003
Fax: 301-907-0878
E-mail: info@nfid.org
Web site: http://www.nfid.org
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Infectious Diseases Society of America
1300 Wilson Blvd
Suite 300
Arlington, VA 22209
Telephone: 703-299-0200
Fax: 703-299-0204
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Web site: http://www.idsociety.org
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