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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Severe congenital neutropenia can result from variants (also known as mutations) in one of many different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils surround foreign invaders and break them down. These cells also release substances, some of which break down foreign invaders and others of which strengthen the immune response.</p><p>Gene variants that cause severe congenital neutropenia lead to the production of neutrophils that die off quickly or do not function as they should. Some gene variants result in the production of unstable proteins that build up in neutrophils, leading to cell death. Other gene variants result in the production of abnormal proteins that prevent neutrophils from developing or functioning properly, which limits the cells&#x27; ability to respond appropriately to immune signals.</p><p>About half of all cases of severe congenital neutropenia are caused by variants in the ELANE gene. Another 10 percent are caused by variants in the HAX1 gene. The other associated genes each account for only a small percentage of all cases of this condition. In about one-third of people with severe congenital neutropenia, the cause of the disorder is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Severe congenital neutropenia?"},{"bodyHtml":"<p>Approximately 20 percent of people with severe congenital neutropenia develop certain cancerous conditions of the blood, particularly myelodysplastic syndrome or leukemia during adolescence.</p><p>Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"severe-congenital-neutropenia","sourceDocuments":[{"name":"Severe congenital neutropenia","reviewed":"2010-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:56.248070+00:00","label":"Causes","pageSha256":"70e1ddce00ce956eccbcb05187aeb528ef5f1176569d697ac840ea52af6e923a","sourceUrl":"https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia"}],"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":"Severe congenital neutropenia"},"schemaVersion":1}