IRAK4 deficiency

Common Name(s)

IRAK4 deficiency, 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "IRAK4 deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "IRAK4 deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".
 

Author(s): Paolo Ruggero Errante, Carolina Prando, Jacinta Bustamante, Walmir Cutrin Aragão Filho, Paulo Vitor Soelio Pereira, Jussara Rehder, Jean Laurent Casanova, Peter Newburger, Antônio Condino Neto

Journal: J. Immunol.. 2009 Sep;183(6):3559.

 

Last Updated: 3 Sep 2009

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Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.
 

Author(s): Anjali Singh, Kol A Zarember, Douglas B Kuhns, John I Gallin

Journal: J. Immunol.. 2009 May;182(10):6410-7.

 

The NADPH oxidase (NOX), an oligomeric enzyme, plays a key role in polymorphonuclear neutrophil (PMN)-mediated host defense by producing cytotoxic superoxide anion (O(2)( )). Whereas in vitro and biochemical studies have examined the assembly and activation of this important host ...

Last Updated: 5 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "IRAK4 deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.