{"orpha":464370,"name":"Neonatal alloimmune neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464370/","orphanet_url":"https://www.orpha.net/en/disease/detail/464370","names":{"fr":{"name":"Neutropénie néonatale allo-immune","definition":"Neutropénie acquise rare, caractérisée par une neutropénie isolée chez un nouveau-né, due à une allo-immunisation foeto-maternelle contre les antigènes neutrophiles humains (HNA) hérités du père et présents sur les neutrophiles foetaux, et à une élimination accrue de ces derniers par la suite. La maladie est spontanément résolutive et se résorbe après plusieurs semaines. Généralement, les infections bactériennes bénignes sont la seule manifestation de la maladie qui, dans certains cas, peut être asymptomatique, bien que des formes sévères avec septicémie et le décès aient également été rapportées."},"de":{"name":"Neonatale Alloimmunneutropenie","definition":"Eine seltene erworbene Neutropenie, die durch eine isolierte Neutropenie bei einem Neugeborenen gekennzeichnet ist, die auf eine mütterliche Alloimmunisierung gegen humane neutrophile Antigene (HNA) zurückzuführen ist, die vom Vater geerbt wurden und auf den fetalen Neutrophilen vorhanden sind, sowie auf den anschließenden verstärkten Abbau der letzteren. Die Erkrankung ist selbstlimitierend und bildet sich nach einigen Wochen zurück. In der Regel treten nur leichte bakterielle Infektionen auf oder sie können sogar asymptomatisch sein, obwohl auch schwere Formen mit Sepsis und tödlichem Ausgang berichtet wurden."},"es":{"name":"Neutropenia aloinmune neonatal","definition":"Es una neutropenia adquirida poco frecuente caracterizada por neutropenia aislada neonatal debido a la aloinmunización materna contra antígenos de los neutrófilos humanos (HNA) heredados del padre y presentes en los neutrófilos fetales, resultando en un aumento de su degradación. El trastorno es autolimitado y remite después de varias semanas. Por lo general, se presenta únicamente con infecciones bacterianas leves, pudiendo incluso permanecer asintomática, aunque también se han descrito formas graves con sepsis y un desenlace fatal."},"it":{"name":"Neutropenia alloimmune neonatale","definition":"Si tratta di una neutropenia acquisita rara, caratterizzata da neutropenia neonatale isolata, causata dall'alloimmunizzazione materna contro gli antigeni dei neutrofili umani (HNA) trasmessi dal padre e presenti sui neutrofili del feto, con un conseguente aumento della loro degradazione. La malattia è autolimitante e si risolve nell'arco di alcune settimane. In genere si manifesta solo in presenza di infezioni batteriche lievi, e può persino essere asintomatica, ma sono state descritte forme gravi associate a sepsi e decesso."},"nl":{"name":"Neonatale allo-immune neutropenie","definition":"Een zeldzame verworven neutropenie, gekarakteriseerd door geïsoleerde neutropenie bij neonaten als gevolg van maternale allo-immunisatie tegen humane neutrofiel-antigenen (HNA) overgeërfd van de vader en aanwezig op foetale neutrofielen, wat vervolgens leidt tot een toename van de afbraak van deze laatsten. De aandoening is zelfbeperkend en verdwijnt na enkele weken. De ziekte presenteert zich meestal met enkel milde bacteriële infecties of kan zelfs asymptomatisch zijn, hoewel ernstige vormen met sepsis en fatale afloop ook reeds werden gerapporteerd."},"pt":{"name":"Neutropenia neonatal aloimune"},"pl":{"name":"Alloimmunologiczna neutropenia noworodków"},"cs":{"name":"Neonatální aloimunní neutropenie"},"uk":{"name":"Неонатальна алергічна нейтропенія","definition":"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported."},"zh":{"name":"新生儿同种免疫中性粒细胞减少","definition":"一种罕见的获得性中性粒细胞减少症，其特征是新生儿孤立性中性粒细胞减少，原因是母体对遗传自父亲的人类中性粒细胞抗原（HNA）的同种异体免疫，随后HNA的分解增加。本病具有自限性，数周后即可缓解。通常只表现为轻微的细菌感染，甚至可能没有症状，但也有报道说严重者会出现败血症和死亡的风险。"},"tr":{"name":"Yenidoğan alloimmün nötropeni"}},"xrefs":[{"source":"ICD-10","code":"P61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA8E","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"667239806"},{"source":"MONDO","code":"0018739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272176","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":178996,"name":"Acquired neutropenia","classifications":[195]}],"children":[],"genes":[{"symbol":"FCGR3B","name":"Fc fragment of IgG receptor IIIb","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":null,"hgnc":"3620","ensembl":"ENSG00000162747","omim":"610665","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.6,"area":"Poland","status":"Validated","source":"11696231[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-27","source":"32422924[PMID]_31049048[PMID]_31858675[PMID]","terms":[{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032435","label":"Neonatal omphalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null}]}}