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Diseases

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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Symptoms

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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.[1][2]
Last updated: 9/20/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for IRAK-4 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of immune system physiology 90%
Abnormality of neutrophils 90%
Abnormality of the lymphatic system 90%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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.
  2. 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.


Other Names for this Disease
  • Interleukin receptor-associated kinase deficiency
  • IRAK4 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.