IRAK-4 deficiency

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. Genetic testing is also available for IRAK-4 deficiency and can be used to confirm the diagnosis. 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 on 05-01-20

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.

Last updated on 05-01-20

Name: Infectious Diseases Society of America 1300 Wilson Blvd Suite 300
Arlington, VA, 22209, United States
Phone: +1-703-299-0200 Fax : +1-703-299-0204 Email: Url:
Name: National Foundation for Infectious Diseases 7201 Wisconsin Avenue Suite 750
Bethesda, MD, 20814, United States
Phone: +1-301-656-0003 Fax : +1-301-907-0878 Email: Url:
Name: International Society for Infectious Diseases 9 Babcock Street, 3rd Floor
Brookline, MA, 02446 , United States
Phone: +1- 617-277-0551 Fax : +1-617-278-9113 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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