{"orpha":486,"name":"Autosomal dominant severe congenital neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-486/","orphanet_url":"https://www.orpha.net/en/disease/detail/486","names":{"fr":{"name":"Neutropénie congénitale sévère autosomique dominante","definition":"Déficit immunitaire primaire rare caractérisé par une transmission autosomique dominante, un nombre absolu de neutrophiles inférieur à 0,5x10E9/L dans le sang périphérique (à trois dosages distincts sur une période de 6 mois), un arrêt de la maturation de la granulopoïèse au stade promyélocyte/myélocyte et des infections bactériennes récurrentes, sévères et précoces."},"de":{"name":"Neutropenie, kongenitale schwere, autosomal-dominante","definition":"Eine seltener primärer Immundefekt, der durch autosomal-dominante Vererbung, absolute Neutrophilenzahlen unter 0,5 x 10E9/l im peripheren Blut (an drei verschiedenen Tagen innerhalb eines Zeitraums von sechs Monaten), einen Reifungsstillstand der Granulopoese im Promyelozyten-/Myelozytenstadium und früh auftretende, schwere, wiederkehrende bakterielle Infektionen gekennzeichnet ist."},"es":{"name":"Neutropenia congénita grave autosómica dominante","definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por una herencia autosómica dominante, recuentos absolutos de neutrófilos por debajo de 0,5x109/L en sangre periférica (en tres ocasiones distintas durante un período de seis meses), arresto del proceso de maduración durante la granulopoyesis en el estadio promielocito / mielocito e infecciones bacterianas recurrentes, graves y de inicio temprano."},"it":{"name":"Neutropenia congenita grave autosomica dominante","definition":"La neutropenia congenita grave autosomica dominante è un'immunodeficienza primitiva rara a trasmissione autosomica dominante, caratterizzata da un numero assoluto dei neutrofili inferiore a 0,5x10E9/L nel sangue periferico (su tre campioni diversi in un arco di sei mesi), arresto della maturazione della granulopoiesi nella fase promielocitica/mielocitica ed infezioni batteriche ricorrenti gravi ad esordio precoce."},"nl":{"name":"Autosomaal dominante ernstige congenitale neutropenie","definition":"Een zeldzame, primaire immuundeficiëntie, gekarakteriseerd door autosomaal dominante overerving, absolute tellingen van neutrofielen lager dan 0,5x10E9/L in perifeer bloed (op drie verschillende tijdstippen gedurende een periode van zes maanden), maturatie-arrest van de granulopoëse ter hoogte van het promyelocyt/myelocyt-stadium, en vroeg aanvangende, ernstige, terugkerende bacteriële infecties."},"pt":{"name":"Neutropenia congénita grave autossómica dominante"},"pl":{"name":"Autosomalna dominująca ciężka wrodzona neutropenia"},"cs":{"name":"Autozomálně dominantní těžká vrozená neutropenie"},"uk":{"name":"Аутосомно-домінантна тяжка вроджена нейтропенія","definition":"A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections."},"zh":{"name":"常染色体显性严重先天性中性粒细胞减少症"},"tr":{"name":"Otozomal dominant ağır doğumsal nötropeni"}},"xrefs":[{"source":"OMIM","code":"202700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"257100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613107","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619813","qualifier":"BTNT","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":"148428676"},{"source":"MONDO","code":"0008742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749612","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9558","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":"CLPB","name":"ClpB family mitochondrial disaggregase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34115842[PMID]","hgnc":"30664","ensembl":"ENSG00000162129","omim":"616254","loci":["11q13.4"]},{"symbol":"ELANE","name":"elastase, neutrophil expressed","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3309","ensembl":"ENSG00000197561","omim":"130130","loci":["19p13.3"]},{"symbol":"GFI1","name":"growth factor independent 1 transcriptional repressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12778173[PMID]","hgnc":"4237","ensembl":"ENSG00000162676","omim":"600871","loci":["1p22.1"]},{"symbol":"SRP19","name":"signal recognition particle 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36223592[PMID]","hgnc":"11300","ensembl":"ENSG00000153037","omim":"182175","loci":["5q22.2"]},{"symbol":"TCIRG1","name":"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24753205[PMID]","hgnc":"11647","ensembl":"ENSG00000110719","omim":"604592","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-16","source":"28593997[PMID]_28875503[PMID]","terms":[{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012311","label":"Increased total monocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006721","label":"Acute lymphoblastic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025452","label":"Pyoderma gangrenosum","frequency":"Occasional (29-5%)","criteria":null}]}}