{"orpha":228000,"name":"Idiopathic CD4 lymphocytopenia","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228000/","orphanet_url":"https://www.orpha.net/en/disease/detail/228000","names":{"fr":{"name":"Lymphocytopénie CD4 idiopathique","definition":"La lymphocytopénie CD4 idiopathique est un trouble rare de l'immunodéficience primaire caractérisé par une lymphopénie persistante en lymphocytes T CD4 (moins de 300 cellules/µL à de multiples occasions), non associée à une autre déficience immunitaire primaire ou secondaire sous-jacente. Habituellement, les patients présentent des infections opportunistes (par le cryptocoque, des mycobactéries, le <i>Candida</i>, le virus <i>Varicella zoster</i>). La leucoencéphalopathie multifocale est la plus prévalente. Ils présentent aussi des malignités (surtout des troubles lymphoprolifératifs) ou des maladies auto-immunes. Certains individus sont asymptomatiques et sont diagnostiqués de manière fortuite."},"de":{"name":"CD4-Lymphozytopenie, idiopathische","definition":"Die idiopathische CD4-Lymphozytopenie ist ein seltener primärer Immundefekt, der durch eine anhaltende CD4-T-Zell-Lymphopenie (weniger als 300 Zellen/µL bei verschiedenen Testdurchgängen) gekennzeichnet ist, die nicht mit einer anderen zugrunde liegenden primären oder sekundären Immunschwäche einhergeht. Die Patienten weisen typischerweise opportunistische Infektionen (wobei Kryptokokken-, Mykobakterien-, Candida-, Varizella-Zoster-Virus-Infektionen und die progressive multifokale Leukoenzephalopathie am häufigsten vorkommen), maligne Erkrankungen (hauptsächlich lymphoproliferative Erkrankungen) oder Autoimmunerkrankungen auf. Einige Personen sind asymptomatisch und werden zufällig diagnostiziert."},"es":{"name":"Linfocitopenia CD4 idiopática","definition":"La linfocitopenia CD4 idiopática es una inmunodeficiencia primaria poco frecuente caracterizada por linfopenia persistente de las células T CD4 (menos de 300 células/µL en muchos casos) no asociada a otra inmunodeficiencia primaria o secundaria subyacente. Típicamente, los afectados presentan infecciones oportunistas (con infecciones criptocócicas, micobacterianas, por cándida, por el virus varicela-zóster y siendo la leucoencefalopatía multifocal progresiva la más prevalente), malignidades (principalmente trastornos linfoproliferativos) o trastornos autoinmunes. Algunos individuos son asintomáticos y diagnosticados de manera accidental."},"it":{"name":"Linfocitopenia CD4 idiopatica","definition":"La linfocitopenia CD4 idiopatica è una malattia rara da immunodeficienza primitiva, caratterizzata da linfopenia persistente delle cellule T CD4 (spesso meno di 300 cellule/µL) non associata ad immunodeficienza primaria o secondaria. Di solito i pazienti presentano infezioni opportunistiche (da cricptococco, micobatteri, candida, virus varicella zoster, associate, nella maggior parte dei casi, a leucoencefalopatia multifocale progressiva), tumori maligni (soprattutto malattie linfoproliferative) o malattie autoimmuni. Alcuni pazienti sono asintomatici e la malattia viene diagnosticata casualmente."},"nl":{"name":"Idiopathische CD4-lymfocytopenie","definition":"Idiopathische CD4-lymfocytopenie een zeldzame primaire immuundeficiëntie en wordt gekarakteriseerd door aanhoudende CD4 T-cel lymfopenie (minder dan 300 cellen/µL bij meerdere metingen) die niet is geassocieerd met een andere onderliggende primaire of secundaire immuundeficiëntie. Patiënten vertonen doorgaans opportunistische infecties (waarbij infecties met cryptokokken, mycobacteriën, candida en varicella-zostervirus, en progressieve multifocale leuko-encefalopathie het meest voorkomen), maligniteiten (vooral lymfoproliferatieve aandoeningen), of auto-immuunstoornissen. Sommige individuen zijn asymptomatisch en worden toevallig gediagnosticeerd."},"pt":{"name":"Linfocitopenia CD4 idiopática"},"pl":{"name":"Idiopatyczna limfocytopenia CD4"},"cs":{"name":"Idiopatická CD4-pozitivní T-lymfocytopenie"},"uk":{"name":"Ідіопатична CD4 лімфоцитопенія","definition":"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."},"zh":{"name":"特发性CD4淋巴细胞减少症","definition":"特发性CD4淋巴细胞减少症是一种罕见的原发性免疫缺陷疾病，其特征是持续性CD4 T细胞淋巴细胞减少（大多数情况下少于300个细胞/ÁL），并与任何其他潜在的原发性或继发性免疫缺陷无关。患者通常表现为机会性感染（隐球菌、分枝杆菌、念珠菌、水痘-带状疱疹病毒感染和进行性多灶性白质脑病最为常见）、恶性肿瘤（主要是淋巴组织增殖性疾病）或自身免疫性疾病。有些患者可无症状表现并被偶然诊断。"},"tr":{"name":"İdiyopatik CD4 lenfositopeni"}},"xrefs":[{"source":"OMIM","code":"615518","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":"1639000446"},{"source":"MONDO","code":"0014226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706550","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12375","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}