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neutropenia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100658","is_excluded":false,"label":"Cellulitis","onset_id":null,"reference":"ORPHA:2686","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/cyclic-neutropenia\">Cyclic neutropenia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to help fight the infection.</p><p>ELANE gene mutations that cause cyclic neutropenia lead to an abnormal neutrophil elastase protein that seems to retain some of its function. However, neutrophils that produce abnormal neutrophil elastase protein appear to have a shorter lifespan than normal neutrophils. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cyclic-neutropenia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cyclic neutropenia?"},{"bodyHtml":"<p>Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cyclic-neutropenia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cyclic-neutropenia","sourceDocuments":[{"name":"Cyclic neutropenia","reviewed":"2012-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:48.054608+00:00","label":"Causes","pageSha256":"b0a636fda1f630fe3603b7e4398e5388f0715198ff1cb4a671861210e2cc8405","sourceUrl":"https://medlineplus.gov/genetics/condition/cyclic-neutropenia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cyclic-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":"Cyclic neutropenia"},"schemaVersion":1}