{"orpha":99749,"name":"Kostmann syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile agranulocytosis","Severe congenital neutropenia type 3"],"definition":"Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99749/","orphanet_url":"https://www.orpha.net/en/disease/detail/99749","names":{"fr":{"name":"Syndrome de Kostmann","synonyms":["Agranulocytose constitutionnelle","Agranulocytose infantile","Neutropénie congénitale sévère type 3"],"definition":"Neutropénie congénitale sévère rare caractérisée par un manque de neutrophiles matures (nombre absolu de neutrophiles inférieur à 500 cellules/mm<sup>3</sup>)) associé à des infections bactériennes fréquentes et récurrentes (par exemple, otite moyenne, pneumonie, sinusite, infections urinaires, abcès de la peau et/ou du foie) et à une augmentation des promyélocytes dans la moelle osseuse. Des maladies parodontales, ainsi que des symptômes neurologiques, tels que des troubles cognitifs, une neurodégénérescence sévère et une épilepsie, ont été rapportés chez certains patients."},"de":{"name":"Kostmann-Syndrom","synonyms":["Neutropenie, kongenitale schwere, Typ 3","Infantile Agranulozytose"]},"es":{"name":"Síndrome de Kostmann","synonyms":["Agranulocitosis infantil","Neutropenia congénita grave tipo 3"],"definition":"El síndrome de Kostmann es un trastorno congénito de neutropenia, grave y poco frecuente, que se caracteriza por la disminución de neutrófilos maduros (recuentos absolutos de neutrófilos por debajo de 500 células / mm3) asociada a infecciones bacterianas recurrentes (p. ej., otitis media, neumonía, sinusitis, infecciones del tracto urinario, abscesos cutáneos y/o hepáticos) y un incremento de promielocitos en médula ósea. También se ha descrito enfermedad periodontal en algunos afectados, así como síntomas neurológicos, tales como deterioro cognitivo, neurodegeneración grave y epilepsia."},"it":{"name":"Sindrome di Kostmann","synonyms":["Agranulocitosi infantile","Neutropenia congenita grave, tipo 3"],"definition":"La sindrome di Kostmann è una neutropenia congenita rara grave, caratterizzata dalla mancanza di neutrofili maturi (numero assoluto dei neutrofili inferiore a 500 cellule/mm3), associata ad infezioni batteriche frequenti e ricorrenti (ad esempio otite media, polmonite, sinusite, infezioni delle vie urinarie, ascessi cutanei e/o epatici) e aumento dei promielociti nel midollo osseo. Alcuni pazienti presentano periodontite e sintomi neurologici, come deficit cognitivo, degenerazione neurologica grave ed epilessia."},"nl":{"name":"Syndroom van Kostmann","synonyms":["Ernstige congenitale neutropenie type 3","Infantiele agranulocytose"],"definition":"Syndroom van Kostmann is een zeldzame, ernstige, congenitale neutropenie die gekarakteriseerd wordt door een gebrek aan rijpe neutrofielen (absoluut aantal neutrofielen minder dan 500 cellen/mm3), geassocieerd met frequente, recurrente bacteriële infecties (e.g. middenoorontsteking, pneumonie, sinusitis, infecties van het urinewegstelsel, huid- en/of leverabcessen) en toename van promyelocyten in het beenmerg. Bij sommige patiënten werden periodontale ziekte, alsook neurologische symptomen, zoals cognitieve stoornis, ernstige neurodegeneratie en epilepsie, gerapporteerd."},"pt":{"name":"Síndrome de Kostmann"},"pl":{"name":"Zespół Kostmanna","synonyms":["Agranulocytoza dziecięca","Ciężka wrodzona neutropenia typu 3"],"definition":"*Zespół Kostmanna jest rzadką, ciężką, wrodzoną neutropenią, która charakteryzuje się brakiem dojrzałych neutrofili (bezwzględna liczba granulocytów obojętnochłonnych mniejsza niż 500 komórek/mm3) i jest związana z częstymi, nawracającymi infekcjami bakteryjnymi (np. zapalenie ucha środkowego, zapalenie płuc, zapalenie zatok, infekcje dróg moczowych, ropnie skóry i/lub wątroby) oraz zwiększeniem liczby promielocytów w szpiku kostnym. U niektórych pacjentów opisywano choroby przyzębia, a także objawy neurologiczne, w tym zaburzenia poznawcze, ciężką neurodegenerację i padaczkę."},"cs":{"name":"Kostmannův syndrom","synonyms":["Infantilní agranulocytóza"]},"uk":{"name":"Синдром Костмана","synonyms":["Інфантильний агранулоцитоз","Тяжка вроджена нейтропенія типу 3"],"definition":"Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."},"zh":{"name":"Kostmann综合征","synonyms":["重度先天性中性粒细胞减少症3型"],"definition":"Kostman综合征是一种罕见、严重的先天性中性粒细胞减少症，其特征是缺乏成熟的中性粒细胞(中性粒细胞绝对数低于500个/mm3)，并伴有频繁、反复的细菌感染(如中耳炎、肺炎、鼻窦炎、尿路感染、皮肤和/或肝脏脓肿)和骨髓中早幼粒细胞的增加。牙周病，以及神经症状，如认知障碍，严重的神经变性和癫痫，也已在一些患者中有报道。"},"tr":{"name":"Kostmann sendromu","synonyms":["İnfantil agranülositoz","Ağır doğumsal nötropeni tip 3"]}},"xrefs":[{"source":"OMIM","code":"610738","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"421553273"},{"source":"MONDO","code":"0012548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537592","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5235141","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"302","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]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"HAX1","name":"HCLS1 associated protein X-1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17187068[PMID]","hgnc":"16915","ensembl":"ENSG00000143575","omim":"605998","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"23351985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0425,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":null}