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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response, which is the body&#x27;s early, nonspecific response to pathogens.</p><p>Mutations in the IRAK4 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional IRAK-4 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/irak-4-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes IRAK-4 deficiency?"},{"bodyHtml":"<p>Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/irak-4-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"irak-4-deficiency","sourceDocuments":[{"name":"IRAK-4 deficiency","reviewed":"2011-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:30.246752+00:00","label":"Causes","pageSha256":"05ce4a3c4063eff099080370dad4d803f75a95bea4ed2c4b78d6200d7a5ed626","sourceUrl":"https://medlineplus.gov/genetics/condition/irak-4-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/irak-4-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"IRAK-4 deficiency"},"schemaVersion":1}