{"orpha":86788,"name":"X-linked severe congenital neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86788/","orphanet_url":"https://www.orpha.net/en/disease/detail/86788","names":{"fr":{"name":"Neutropénie sévère congénitale liée à l'X","definition":"La neutropénie sévère congénitale liée à l'X est un syndrome d'immunodéficience caractérisé par de sévères infections bactériennes récurrentes, une neutropénie congénitale sévère et une monocytopénie. Il a été décrit chez cinq individus masculins appartenant à trois générations d'une même famille. Ce syndrome se transmet sur le mode récessif lié à l'X, et est lié à des mutations du gène <I>WAS</I>, codant pour la protéine WASP."},"de":{"name":"Neutropenie, kongenitale schwere, X-chromosomale","definition":"Bei dieser Krankheit handelt es sich um ein Immundefizienz-Syndrom mit schweren rezidivierenden bakteriellen Infekten und schwerer angeborener Neutropenie und Monozytopenie."},"es":{"name":"Neutropenia congénita grave ligada al cromosoma X","definition":"Es un síndrome de inmunodeficiencia caracterizado por infecciones bacterianas graves recurrentes, neutropenia congénita grave y monocitopenia. Se ha descrito en cinco varones de tres generaciones de una misma familia. Se transmite como un rasgo recesivo ligado al cromosoma X y está causado por mutaciones en el gen <i>WAS</i>, que codifica para la proteína WASP."},"it":{"name":"Neutropenia congenita grave legata all'X"},"nl":{"name":"X-gebonden ernstige congenitale neutropenie","definition":"Een immuundeficiëntiesyndroom, gekenmerkt door recidiverende ernstige bacteriële infecties, ernstige congenitale neutropenie, en monocytopenie. Het werd beschreven bij vijf mannen uit drie generaties van één familie. Het wordt overgedragen als een X-gebonden recessief kenmerk, en veroorzaakt door mutaties in het gen <i>WAS</i>, dat codeert voor het eiwit WASP."},"pt":{"name":"Neutropenia congénita grave ligada ao X"},"pl":{"name":"Wrodzona ciężka neutropenia sprzężona z chromosomem X"},"cs":{"name":"X-vázaná těžká vrozená neutropenie"},"uk":{"name":"Х-зчеплена тяжка вроджена нейтропенія","definition":"X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein."},"zh":{"name":"X连锁严重先天性中性粒细胞减少症"},"tr":{"name":"X'e bağlı ağır doğumsal nötropeni"}},"xrefs":[{"source":"OMIM","code":"300299","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"452924218"},{"source":"MONDO","code":"0010294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564539","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845987","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":42738,"name":"Severe congenital neutropenia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"WAS","name":"WASP actin nucleation promoting factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11242115[PMID]","hgnc":"12731","ensembl":"ENSG00000015285","omim":"300392","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"16804117[PMID]_11242115[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11242115[PMID]","terms":[{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012312","label":"Monocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null}]}}