{"orpha":228423,"name":"GATA2 deficiency spectrum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GATA binding protein 2 deficiency spectrum"],"definition":"A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228423/","orphanet_url":"https://www.orpha.net/en/disease/detail/228423","names":{"fr":{"name":"Spectre de déficit en GATA2","synonyms":["Spectre de déficit en protéine GATA binding protein 2"],"definition":"Déficit immunitaire primaire rare, d'origine génétique, caractérisé par une monocytopénie circulante profonde, une lymphopénie des cellules B et NK et une diminution sévère des cellules dentritiques, qui se manifeste sur le plan clinique par des infections mycobactériennes et virales disséminées, ainsi que par des infections fongiques et parasitaires opportunistes et une protéinose alvéolaire pulmonaire fréquente. Une prédisposition au développement de néoplasmes myéloïdes est associée."},"de":{"name":"GATA2-Defizienz-Spektrum"},"es":{"name":"Espectro de deficiencia de GATA2","synonyms":["Espectro de deficiencia de la proteína de unión a GATA 2"],"definition":"La monocitopenia con susceptibilidad a infecciones es un trastorno de inmunodeficiencia primaria genético y poco frecuente caracterizado por monocitopenia circulante profunda, linfopenia de células B y NK y una disminución severa de células dendríticas. Se manifiesta clínicamente con infecciones víricas y micobacterianas diseminadas, así como con infecciones oportunistas por hongos y parásitos, y proteinosis alveolar pulmonar frecuente. También está asociada con predisposición al desarrollo de neoplasias mieloides."},"it":{"name":"Spettro del deficit di GATA2","synonyms":["Spettro del deficit della proteina 2 legante GATA"],"definition":"La monocitopenia con suscettibilità alle infezioni è un'immunodeficienza primitiva genetica rara, caratterizzata da monocitopenia grave nel sangue periferico, linfopenia delle cellule B e NK, e marcata riduzione delle cellule dendritiche. Dal punto di vista clinico, la malattia esordisce con infezioni micobatteriche e virali diffuse, infezioni fungine e parassitarie opportunistiche, e frequentemente proteinosi alveolare polmonare. Si associa a suscettibilità alle neoplasie mieloidi."},"nl":{"name":"GATA2-deficiëntie-spectrum","synonyms":["GATA-bindingsproteïne 2-deficiëntie-spectrum"],"definition":"Monocytopenie met susceptibiliteit voor infecties is een zeldzame, genetische, primaire immuundeficiëntie, en wordt gekarakteriseerd door ernstige circulerende monocytopenie, B- en NK-cellymfopenie en ernstige afname van dendritische cellen, wat zich klinisch manifesteert met verspreide mycobacteriële en virale infecties, alsook opportunistische fungale en parasitaire infecties en frequente pulmonale alveolaire proteïnose. Predispositie voor ontwikkeling van myeloïde neoplasma's is geassocieerd."},"pt":{"name":"Espectro clínico de deficiência de GATA2","synonyms":["Espectro clínico de deficiência da proteína GATA 2 de ligação"]},"pl":{"name":"Spektrum niedoboru GATA2","synonyms":["MonoMAC","Niedobór komórek dendrytycznych, monocytów, limfocytów B i NK","Niedobór monocytów - B - naturalnych zabójców - komórek dendrytycznych","Zespół monocytopenia i zakażenia mykobakteryjne","Złożony Niedobór odporności z podatnością na zakażenia mykobakteryjne, wirusowe i grzybicze"],"definition":"*Monocytopenia z podatnością na zakażenia jest rzadkim, genetycznie uwarunkowanym, pierwotnym niedoborem odporności, który charakteryzuje się głęboką monocytopenią, limfopenią w zakresie komórek B i NK oraz znacznym zmniejszeniem liczby komórek dendrytycznych. Klinicznie objawia się rozsianymi zakażeniami prątkowymi i wirusowymi, a także oportunistycznymi grzybicami i chorobami pasożytniczymi oraz często proteinozą pęcherzyków płucnych. Towarzyszy predyspozycja do nowotworów wywodzących się z komórek szpiku."},"cs":{"name":"Monocytopenie s náchylností k infekcím","synonyms":["MonoMAC","Syndrom monocytopenie a mykobakteriální infekce","Kombinovaná imunodeficience s náchylností k mykobakteriálním, virovým a plísňovým infekcím","Deficit dendritických buněk, monocytů, B lymfocytů a NK buněk","Syndrom zahrnující deficit monocytů, B lymfocytů, NK buněk a dendritických buněk"]},"uk":{"name":"Спектр дефіциту GATA2","synonyms":["Спектр дефіциту GATA-звязуючого білка 2"],"definition":"A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated."},"zh":{"name":"单核细胞减少症伴传染易感","synonyms":["免疫缺陷伴分枝杆菌、病毒、真菌感染易感性"],"definition":"单核细胞减少症伴易感症是一种罕见的遗传性原发性免疫缺陷性疾病，其特征是血液循环中的单核细胞减少、淋巴细胞中B细胞和NK细胞减少以及树突状细胞严重减少，临床表现为分枝杆菌和病毒播散感染，以及真菌和寄生虫机会性感染和常见的肺泡蛋白沉积。本病也有髓样肿瘤易感。"},"tr":{"name":"Enfeksiyonlara duyarlılık ile seyreden monositopeni","synonyms":["MonoMAC","Monositopeni ve mikobakteriyel enfeksiyon sendromu","Dendritik hücre, monosit, B ve NK lenfoid eksikliği","Monosit-B-doğal öldürücü-dendritik hücre eksikliği sendromu","Mikobakteriyel, viral ve fungal enfeksiyonlara duyarlılık ile seyreden kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"614172","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1077753382"},{"source":"MONDO","code":"0013607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3226,"name":"Deafness-lymphedema-leukemia syndrome","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":674896,"name":"Non-syndromic congenital phagocyte functional defect","classifications":[156,195]}],"children":[],"genes":[{"symbol":"GATA2","name":"GATA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21765025[PMID]_21670465[PMID]","hgnc":"4171","ensembl":"ENSG00000179348","omim":"137295","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"20040766[PMID]_21242295[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-16","source":null,"terms":[{"hpo":"HP:0011991","label":"Abnormal neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Occasional (29-5%)","criteria":null}]}}