{"orpha":279943,"name":"Hereditary neutrophilia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-279943/","orphanet_url":"https://www.orpha.net/en/disease/detail/279943","names":{"fr":{"name":"Neutrophilie héréditaire","definition":"Maladie immunologique rare d'origine génétique, caractérisée par une neutrophilie chronique, un pourcentage accru de cellules CD34+ circulant dans le sang périphérique, un nombre accru de précurseurs des granulocytes dans la moelle osseuse et une splénomégalie. La majorité des patients sont asymptomatiques, mais certains peuvent présenter un syndrome de réponse inflammatoire systémique avec fièvre, dyspnée, tachycardie, épanchements pleuraux et péricardiques, ou un syndrome myélodysplasique."},"de":{"name":"Neutrophilie, hereditäre","definition":"Eine genetisch bedingte Immunkrankheit, die durch chronische Neutrophilie, eine Erhöhung des Anteils der zirkulierenden CD34+-Zellen im peripheren Blut, eine Zunahme der Granulozytenvorläufer im Knochenmark und Splenomegalie gekennzeichnet ist. Die Patienten sind überwiegend asymptomatisch, können aber ein systemisches Entzündungssyndrom mit Fieber, Dyspnoe, Tachykardie, Pleura- und Perikarderguss oder ein myelodysplastisches Syndrom aufweisen."},"es":{"name":"Neutrofilia hereditaria","definition":"Es una enfermedad inmunológica genética y poco frecuente caracterizada por neutrofilia crónica, incremento del porcentaje de células CD34 + circulantes en sangre periférica, así como de los precursores de granulocitos en médula ósea, y esplenomegalia. Los afectados son, predominantemente, asintomáticos, pero se pueden presentar con el síndrome de respuesta inflamatoria sistémica, incluyendo fiebre, displasia, taquicardia, efusión pleural y pericárdica o síndrome mielodisplásico."},"it":{"name":"Neutrofilia ereditaria","definition":"È una malattia autoimmune genetica rara, caratterizzata da neutrofilia cronica, aumento della percentuale di cellule CD34+ nel sangue periferico, aumento dei precursori dei granulociti nel midollo osseo e splenomegalia. I pazienti sono per lo più asintomatici, ma possono presentare una sindrome da risposta infiammatoria sistemica con febbre, dispnea, tachicardia e versamento pleurico e pericardico, oppure una sindrome mielodisplastica."},"nl":{"name":"Hereditaire neutrofilie","synonyms":["Erfelijke neutrofilie"],"definition":"Een zeldzame, genetische immuunziekte die gekarakteriseerd wordt door chronische neutrofilie, verhoogd percentage circulerende CD34+ cellen in perifeer bloed, toename van precursorcellen van granulocyten in het beenmerg, en splenomegalie. Patiënten zijn overwegend asymptomatisch, maar vertonen mogelijk systemische inflammatoire respons-syndroom met koorts, dyspneu, tachycardie, pleura- en pericardvocht, of myelodysplastisch syndroom."},"pt":{"name":"Neutrofilia hereditária"},"pl":{"name":"Neutrofilia dziedziczna"},"cs":{"name":"Hereditární neutrofilie"},"uk":{"name":"Спадкова нейтрофілія","definition":"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome."},"zh":{"name":"遗传性中性粒细胞增多症","definition":"遗传性中性粒细胞增多症一种罕见的遗传性免疫疾病，其特征是慢性中性粒细胞增多，外周血循环CD34+细胞增加，骨髓中粒细胞前体增多，脾肿大。患者主要无症状，但可能表现为全身炎症反应综合征伴发热、呼吸困难、心动过速、胸膜和心包积液或骨髓增生异常综合征。"},"tr":{"name":"Kalıtsal nötrofili"}},"xrefs":[{"source":"OMIM","code":"162830","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"504830471"},{"source":"MONDO","code":"0008092","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0543669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183770,"name":"Rare genetic immune disease","classifications":[156]},{"orpha":98004,"name":"Rare immune disease","classifications":[195]}],"children":[],"genes":[{"symbol":"CSF3R","name":"colony stimulating factor 3 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19620628[PMID]","hgnc":"2439","ensembl":"ENSG00000119535","omim":"138971","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"19620628[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19620628[PMID]"}],"phenotypes":null}