{"orpha":2688,"name":"Adult idiopathic neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult chronic idiopathic neutropenia"],"definition":"A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2688/","orphanet_url":"https://www.orpha.net/en/disease/detail/2688","names":{"fr":{"name":"Neutropénie idiopathique de l'adulte","synonyms":["Neutropénie chronique idiopathique de l'adulte"],"definition":"Déficit immunitaire acquis rare caractérisé par l'apparition, à l'âge adulte, d'un nombre absolu de neutrophiles inférieur à 1,5 x 10^9/L à au moins 3 reprises au cours d'une période de 3 mois, qui ne peut être imputé à la prise de médicaments ou à une cause génétique, infectieuse, inflammatoire, auto-immune ou maligne spécifique. Des épisodes récurrents de stomatite aphteuse et des antécédents d'infections bactériennes bénignes sont habituellement associés. Avec un taux d'infections sévères faible et en l'absence de tumeur maligne secondaire, l'évolution observée est bénigne."},"de":{"name":"Neutropenie, adulte idiopathische","synonyms":["Neutropenie, adulte chronische idiopathische"],"definition":"Eine seltener erworbener Immundefekt des Erwachsenen, der gekennzeichnet ist durch eine absolute Neutrophilenzahl von weniger als 1,5 x 10^9/L bei mindestens drei Messungen innerhalb eines Zeitraums von drei Monaten. Die Störung ist nicht auf Medikamente oder eine spezifische genetische, infektiöse, entzündliche, autoimmune oder bösartige Ursache zurückgeführen. Typisch sind rezidivierende aphthöse Stomatitis und eine Vorgeschichte mit leichten bakteriellen Infektionen. Es wird ein gutartiger Verlauf mit einer geringen Rate an schweren Infektionen beobachtet, es treten keine sekundären Malignome auf."},"es":{"name":"Neutropenia idiopática del adulto","synonyms":["Neutropenia idiopática crónica del adulto"],"definition":"Es una inmunodeficiencia adquirida poco frecuente de inicio en el adulto caracterizada por un recuento absoluto de neutrófilos inferior a 1,5 x 109 / L en al menos tres ocasiones en un período de tres meses, sin que pueda atribuirse al uso de medicamentos o a una causa genética, infecciosa, inflamatoria, autoinmune o maligna específica. Esta enfermedad se asocia habitualmente a estomatitis aftosa recurrente y a un historial de infecciones bacterianas leves. Se ha descrito un pronóstico benigno con una reducida tasa de infecciones graves y sin neoplasias malignas secundarias."},"it":{"name":"Neutropenia idiopatica dell'adulto","definition":"È un'immunodeficienza acquisita rara ad esordio nell'età adulta, caratterizzata da un numero assoluto dei neutrofili inferiore a 1,5 x 10^9/L in almeno tre occasioni in un arco di tre mesi, non attribuibile all'assunzione di farmaci o a cause specifiche di natura genetica, infettiva, infiammatoria, autoimmune o maligna. Di solito si associa a stomatiti aftose ricorrenti e ad un'anamnesi positiva per infezioni batteriche lievi. L'esito è favorevole, con un tasso ridotto di infezioni gravi e nessun tumore maligno secondario."},"nl":{"name":"Volwassen idiopathische neutropenie","synonyms":["Volwassen chronische idiopathische neutropenie"],"definition":"Een zeldzame, verworven immuundeficiëntie die gekarakteriseerd wordt door aanvang in de volwassenheid van een absoluut aantal neutrofielen kleiner dan 1,5 x 10^9/L bij minstens drie tellingen in een periode van drie maanden, die niet kan toegeschreven worden aan het gebruik van medicijnen of een specifieke genetische, infectieuze, inflammatoire, auto-immune of maligne oorzaak. Recurrente afteuze stomatitis en een voorgeschiedenis met milde bacteriële infecties zijn doorgaans geassocieerd. Er wordt een goedaardige uitkomst waargenomen, met weinig ernstige infecties en geen secundaire maligniteiten."},"pt":{"name":"Neutropenia idiopática do adulto"},"pl":{"name":"Idiopatyczna neutropenia wieku dorosłego","synonyms":["Adult chronic idiopathic neutropenia"]},"cs":{"name":"Adultní idiopatické neutropenie","synonyms":["Adult chronic idiopathic neutropenia"]},"uk":{"name":"Ідіопатична нейтропенія у дорослих","synonyms":["Хронічна ідіопатична нейтропенія у дорослих"],"definition":"A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed."},"zh":{"name":"成人特发性中性粒细胞减少症","synonyms":["成人慢性特发性中性粒细胞减少"]},"tr":{"name":"Yetişkin idiyopatik nötropeni","synonyms":["Erişkin kronik idiyopatik nötropeni"]}},"xrefs":[{"source":"OMIM","code":"607847","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B00.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2015940146"},{"source":"MONDO","code":"0011922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191335","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-17","source":"23771659[PMID]_28732781[PMID]_27841775[PMID]_26066399[PMID]","terms":[{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005202","label":"Helicobacter pylori infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012139","label":"Granulocytic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012312","label":"Monocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012311","label":"Increased total monocyte count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}