{"orpha":420702,"name":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the <i>CSF3R</i> gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420702/","orphanet_url":"https://www.orpha.net/en/disease/detail/420702","names":{"fr":{"name":"Neutropénie congénitale sévère autosomique récessive par déficit en CSF3R","definition":"Déficit immunitaire primaire rare d'origine génétique, caractérisé par une prédisposition à des infections bactériennes récurrentes et potentiellement létales associées à une diminution des granulocytes neutrophiles périphériques (nombre absolu de neutrophiles inférieur à 500 cellules/microlitre), résultant de mutations de perte de fonction dans le gène <i>CSF3R</i>, transmises de manière récessive. Une maturation complète des trois lignées dans la moelle osseuse et une résistance au traitement in vivo par rhG-CSF sont associées."},"de":{"name":"Neutropenie, kongenitale schwere, autosomal-rezessive, durch CSF3R-Mangel"},"es":{"name":"Neutropenia congénita grave autosómica recesiva por deficiencia en CSF3R","definition":"Es un trastorno por inmunodeficiencia primaria de origen genético y poco frecuente caracterizado por una predisposición a infecciones bacterianas recurrentes potencialmente mortales asociada a una disminución de los neutrófilos periféricos (recuento absoluto de neutrófilos inferior a 500 células / microlitro), causado por mutaciones recesivas de pérdida de función en el gen <i>CSF3R</i>. La maduración completa de las tres líneas en la médula ósea está asociada con la resistencia al tratamiento <i>in vivo</i> con rhG-CSF."},"it":{"name":"Neutropenia congenita grave, autosomica recessiva, da deficit di CSF3R","definition":"La neutropenia congenita grave autosomica recessiva da deficit di CSF3R è un'immunodeficienza primitiva genetica rara, caratterizzata dalla predisposizione alle infezioni batteriche ricorrenti e potenzialmente letali, associata ad una diminuzione dei granulociti neutrofili periferici (il numero assoluto dei neutrofili è inferiore a 500 per microlitro). La malattia è causata da mutazioni recessive con perdita di funzione nel gene CSF3R. Si associa alla completa maturazione delle tre linee nel midollo osseo e alla refrattarietà al trattamento in vivo con rhG-CSF."},"nl":{"name":"Autosomaal recessieve ernstige congenitale neutropenie door CSF3R-deficiëntie","definition":"Autosomaal recessieve ernstige congenitale neutropenie door CSF3R-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door vatbaarheid voor recurrente, levensbedreigende bacteriële infecties geassocieerd met verminderd aantal perifere neutrofiele granulocyten (absoluut aantal neutrofielen lager dan 500 cellen/microliter), als gevolg van recessief overgeërfde mutaties met functieverlies in het gen <i>CSF3R</i>. Volledige maturatie van alle drie de cellijnen in het beenmerg en ongevoeligheid voor <i>in vivo</i> behandeling met rhG-CSF zijn geassocieerd."},"pt":{"name":"Neutropenia congénita grave autossómica recessiva por deficiência de CSF3R"},"pl":{"name":"Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru CSF3R"},"cs":{"name":"Autozomálně recesivní těžká vrozená neutropenie způsobená deficitem CSF3R"},"uk":{"name":"Аутосомно-рецесивна тяжка вроджена нейтропенія, зумовлена дефіцитом CSF3R","definition":"A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the <i>CSF3R</i> gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated."},"zh":{"name":"CSF3R缺陷所致的常染色体隐性遗传性先天性中性粒细胞减少症","definition":"由于CSF3R缺乏而导致的常染色体隐性遗传的严重先天性中性粒细胞减少症是一种罕见的遗传性原发性免疫缺陷病，其特征是易出现反复发作的威胁生命的细菌感染，与周围嗜中性粒细胞粒细胞减少有关（绝对嗜中性粒细胞计数少于500细胞/微升） 。上述临床表型与CSF3R 基因的失功能变异相关。骨髓中所有三系的完全成熟，且对体内rhG-CSF治疗的耐受。"},"tr":{"name":"CSF3R eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni"}},"xrefs":[{"source":"OMIM","code":"617014","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190863","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":439849,"name":"Autosomal recessive severe congenital neutropenia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CSF3R","name":"colony stimulating factor 3 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24753537[PMID]","hgnc":"2439","ensembl":"ENSG00000119535","omim":"138971","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24753537[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24753537[PMID]"}],"phenotypes":null}