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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
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Your Question

I 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. 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

How can I find a genetics professional in my area?

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:

Last updated: 7/17/2013