{"orpha":42738,"name":"Severe congenital neutropenia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42738/","orphanet_url":"https://www.orpha.net/en/disease/detail/42738","names":{"fr":{"name":"Neutropénie congénitale sévère","definition":"Déficit immunitaire primaire rare, sans déficit lymphocytaire associé, caractérisé par une altération de la maturation et/ou une altération fonctionnelle des neutrophiles, associé à des infections sévères, à diverses comorbidités et/ou à un risque accru de transformation en leucémie."},"de":{"name":"Neutropenie, kongenitale schwere","definition":"Ein seltener primärer Immundefekt, der nicht mit einem Lymphozytendefizit einhergeht und durch eine gestörte Neutrophilenreifung und/oder -funktion gekennzeichnet ist, die mit schweren Infektionen, verschiedenen Begleiterkrankungen und/oder einem erhöhten Risiko einer leukämischen Transformation einhergeht."},"es":{"name":"Neutropenia congénita grave","definition":"Es una inmunodeficiencia primaria poco frecuente, sin déficit linfocitario asociado, caracterizada por alteración de la maduración y/o función de los neutrófilos y asociada a infecciones graves, diversas comorbilidades y/o un mayor riesgo de transformación leucémica."},"it":{"name":"Neutropenia congenita grave"},"nl":{"name":"Ernstige congenitale neutropenie","definition":"Een zeldzame primaire immuundeficiëntie, met of zonder geassocieerd tekort aan lymfocyten, gekenmerkt door verstoorde rijping en/of functie van neutrofielen, geassocieerd met ernstige infecties, diverse comorbiditeiten, en/of een verhoogd risico op leukemische transformatie."},"pt":{"name":"Neutropenia congénita"},"pl":{"name":"Ciężka wrodzona neutropenia"},"cs":{"name":"Těžká vrozená neutropenie, typ 3","synonyms":["Kostmannova choroba"]},"uk":{"name":"Тяжка вроджена нейтропенія","definition":"Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit."},"zh":{"name":"重型先天性中性白细胞减少症"},"tr":{"name":"Ağır doğumsal nötropeni"}},"xrefs":[{"source":"MONDO","code":"0018542","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18542","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853118","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13592","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":37629,"name":"Neonatal neutropenia","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101987,"name":"Congenital neutropenia","classifications":[156,195,233]}],"children":[{"orpha":486,"name":"Autosomal dominant severe congenital neutropenia","type":"Disease"},{"orpha":439849,"name":"Autosomal recessive severe congenital neutropenia","type":"Category"},{"orpha":86788,"name":"X-linked severe congenital neutropenia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Worldwide","status":"Not yet validated","source":"12555210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Sweden","status":"Validated","source":"22624626[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Sweden","status":"Not yet validated","source":"22624626[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"France","status":"Validated","source":"20399414[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.077,"area":"Iran, Islamic Republic of","status":"Validated","source":"17024564[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.7,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":null}