{"orpha":420699,"name":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420699/","orphanet_url":"https://www.orpha.net/en/disease/detail/420699","names":{"fr":{"name":"Neutropénie congénitale sévère autosomique récessive par déficit en CXCR2","definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par des infections bactériennes récurrentes (dont une thrombophlébite septique et une endocardite bactérienne subaiguë) et une neutropénie sans lymphopénie ni verrues, dû à des mutations récessives du gène <i>CXCR2</i>."},"de":{"name":"Neutropenie, kongenitale schwere, autosomal-rezessive, durch CXCR2-Mangel"},"es":{"name":"Neutropenia congénita grave autosómica recesiva por deficiencia en CXCR2","definition":"Es un trastorno por inmunodeficiencia primaria, genético y poco frecuente, caracterizado por infecciones bacterianas recurrentes (incluyendo tromboflebitis séptica y endocarditis bacteriana subaguda) y neutropenia sin linfocitopenia o verrugas. La enfermedad está causada por mutaciones recesivas en <i>CXCR2<i/>."},"it":{"name":"Neutropenia congenita grave, autosomica recessiva, da deficit di CXCR2","definition":"La neutropenia congenita grave autosomica recessiva da deficit di CXCR2 è un'immunodeficienza primitiva rara, di origine genetica, caratterizzata da infezioni batteriche ricorrenti (compresa la tromboflebite settica e l'endocardite batterica subacuta) e neutropenia senza linfopenia o condilomi, causata da mutazioni recessive nel gene CXCR2."},"nl":{"name":"Autosomaal recessieve ernstige congenitale neutropenie door CXCR2-deficiëntie","definition":"Autosomaal recessieve ernstige congenitale neutropenie door CXCR2-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door recurrente bacteriële infecties (waaronder septische tromboflebitis en subacute bacteriële endocarditis) en neutropenie zonder lymfopenie of wratten, en die het gevolg is van recessief overgeërfde mutaties in het gen <i>CXCR2<i/>."},"pt":{"name":"Neutropenia congénita grave autossómica recessiva por deficiência de CXCR2"},"pl":{"name":"Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru CXCR2"},"cs":{"name":"Autozomálně recesivní těžká vrozená neutropenie způsobená deficitem CXCR2"},"uk":{"name":"Аутосомно-рецесивна тяжка вроджена нейтропенія, зумовлена дефіцитом CXCR2","definition":"A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2</i>."},"zh":{"name":"CXCR2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CXCR2缺乏而导致的常染色体隐性遗传性严重先天性原发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，其特征是反复发作的细菌感染（包括败血性血栓性静脉炎和亚急性细菌性心内膜炎）和中性淋巴细胞减少症不合并淋巴细胞减疣。这是由于CXCR2的隐性遗传突变导致。"},"tr":{"name":"CXCR2 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni"}},"xrefs":[{"source":"OMIM","code":"619407","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190862","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":"CXCR2","name":"C-X-C motif chemokine receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24777453[PMID]","hgnc":"6027","ensembl":"ENSG00000180871","omim":"146928","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24777453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24777453[PMID]"}],"phenotypes":null}