- Interleukin receptor-associated kinase deficiency
- IRAK4 deficiency
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Your QuestionI have a low white blood cell count as well as several other symptoms. Although I have undergone testing, I still do not have a diagnosis. I recently learned about a young lady who had IRAK4 deficiency. I would like to know more about the conditon.
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Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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.
- 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.
- 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.