{"orpha":2587,"name":"Myeloperoxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPO deficiency"],"definition":"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2587/","orphanet_url":"https://www.orpha.net/en/disease/detail/2587","names":{"fr":{"name":"Déficit en myéloperoxydase","synonyms":["Déficit en MPO"],"definition":"Déficit immunitaire primaire rare par défaut de l'immunité innée, caractérisé par une nette diminution ou par une absence de l'activité de la myéloperoxydase dans les neutrophiles et les monocytes. Sur le plan clinique, la plupart des patients sont asymptomatiques. Des complications infectieuses sévères peuvent s'observer dans certains cas, notamment des infections récurrentes à <i>Candida</i>, d'autant plus sévères en cas de diabète sucré comorbide."},"de":{"name":"Myeloperoxidase-Mangel","synonyms":["MPO-Mangel"],"definition":"Ein seltener primärer Immundefekt, der auf einer Störung der angeborenen Immunität beruht und durch eine deutliche Abnahme oder das Fehlen der Myeloperoxidase-Aktivität in Neutrophilen und Monozyten gekennzeichnet ist. Klinisch gesehen sind die meisten Patienten asymptomatisch. Gelegentlich kann es zu schweren infektiösen Komplikationen kommen, insbesondere zu rezidivierenden Candida-Infektionen, die besonders schwerwiegend sind, wenn gleichzeitig ein Diabetes mellitus besteht."},"es":{"name":"Deficiencia de mieloperoxidasa","synonyms":["Deficiencia de MPO"],"definition":"Es una inmunodeficiencia primaria poco frecuente debida a un defecto en la inmunidad innata caracterizada por una marcada disminución o ausencia de la actividad de la mieloperoxidasa en neutrófilos y monocitos. Clínicamente, la mayoría de los pacientes permanecen asintomáticos. Ocasionalmente, pueden producirse graves complicaciones infecciosas, particularmente infecciones recurrentes por cándida, que son especialmente graves en el contexto de la diabetes mellitus comórbida."},"it":{"name":"Deficit di mieloperossidasi","synonyms":["Deficit di MPO"],"definition":"È un'immunodeficienza primitiva rara, causata da un difetto dell'immunità innata; è caratterizzata da una marcata riduzione o dall'assenza dell'attività della mieloperossidasi nei neutrofili e nei monociti. La maggior parte dei pazienti è asintomatica. Occasionalmente possono insorgere complicanze infettive gravi, in particolare infezioni ricorrenti da candida, che sono particolarmente gravi se associate al diabete mellito."},"nl":{"name":"Deficiëntie van myeloperoxidase","synonyms":["MPO-deficiëntie"],"definition":"Een zeldzame, primaire immuundeficiëntie als gevolg van een defect van de aangeboren immuniteit, die gekarakteriseerd wordt door aanzienlijke verminderde of afwezige activiteit van myeloperoxidase in neutrofielen en monocyten. Klinisch zijn de meeste patiënten asymptomatisch. Occasioneel kunnen ernstige infectieuze complicaties optreden, voornamelijk recurrente candida-infecties, die vooral ernstig zijn in de context van comorbide diabetes mellitus."},"pt":{"name":"Deficiência de mieloperoxidase","synonyms":["Deficiência de MPO"]},"pl":{"name":"Niedobór mieloperoksydazy","synonyms":["Niedobór MPO"]},"cs":{"name":"Deficit myeloperoxidázy","synonyms":["Deficit MPO"]},"uk":{"name":"Дефіцит мієлопероксидази","synonyms":["Дефіцит MPO"],"definition":"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus."},"zh":{"name":"髓过氧化物酶缺乏症","synonyms":["髓过氧化物酶缺乏症"]},"tr":{"name":"Miyeloperoksidaz eksikliği","synonyms":["MPO eksikliği"]}},"xrefs":[{"source":"OMIM","code":"254600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1933575033"},{"source":"MONDO","code":"0009694","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398595","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3868","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":674896,"name":"Non-syndromic congenital phagocyte functional defect","classifications":[156,195]}],"children":[],"genes":[{"symbol":"MPO","name":"myeloperoxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7904599[PMID]","hgnc":"7218","ensembl":"ENSG00000005381","omim":"606989","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"29262241[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29262241[PMID]_ORPHANET"}],"phenotypes":null}