{"orpha":512017,"name":"Chronic lymphoproliferative disorder of natural killer cells","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CLPD-NK","CNKL","Chronic NK lymphocytosis","Chronic NK-cell lymphocytosis","Chronic lymphoproliferative disorder of NK-cells","NK-cell lineage granular lymphocyte proliferative disorder"],"definition":"A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-512017/","orphanet_url":"https://www.orpha.net/en/disease/detail/512017","names":{"fr":{"name":"Leucémie chronique à grands lymphocytes granuleux à cellules NK","synonyms":["Leucémie chronique à GLG-NK","Leucémie chronique à LGL-NK","Leucémie lymphoïde à grands lymphocytes granuleux de type NK","Lymphocytose GLG à cellules NK","Lymphocytose LGL à cellules NK","Syndrome lymphoprolifératif chronique à cellules NK"],"definition":"Leucémie rare à grands lymphocytes granuleux caractérisée par une lymphocytose persistante (> 6 mois) des cellules tueuses naturelles en l'absence de diagnostic clinique de leucémie/lymphome, de maladie auto-immune ou d'infections virales chroniques. Sur le plan clinique, l'évolution de la maladie est variable, mais dans la plupart des cas, indolente. Les patients sont souvent asymptomatiques ou peuvent présenter des signes cliniques tels que des lésions cutanées vasculaires, des infections neutropéniques, des atteintes musculo-squelettiques, une neuropathie périphérique ou une splénomégalie."},"de":{"name":"Chronische lymphoproliferative Krankheit der natürlichen Killer-Zellen","synonyms":["CLPD-NK","Chronische NK-Zellen-Lymphozytose","Chronische lymphoproliferative Krankheit der NK-Zellen","Proliferative Krankheit granulärer Lymphozyten der NK-Zelllinie"],"definition":"Eine seltene großkörnige Lymphozytenleukämie, die durch eine anhaltende (> 6 Monate) Lymphozytose der natürlichen Killerzellen gekennzeichnet ist, ohne dass eine klinische Diagnose einer Leukämie/eines Lymphoms, einer Autoimmunerkrankung oder einer chronischen Virusinfektion vorliegt. Der klinische Verlauf ist unterschiedlich, aber im Allgemeinen indolent. Die Patienten bleiben oft asymptomatisch oder zeigen klinische Manifestationen wie vaskulitische Hautläsionen, neutropenische Infektionen, muskuloskelettale Symptome, periphere Neuropathie oder Splenomegalie."},"es":{"name":"Trastorno linfoproliferativo crónico de células natural killer","synonyms":["CLPD-NK","CNKL","Linfocitosis crónica NK","Linfocitosis crónica de células NK","Trastorno linfoproliferativo crónico de células NK","Trastorno proliferativo de linfocitos granulares de línea de células NK"],"definition":"Es una leucemia de linfocitos grandes granulares, poco frecuente, caracterizada por linfocitosis persistente (> 6 meses) de células natural killer en ausencia de un diagnóstico clínico de leucemia/linfoma, enfermedad autoinmune o infecciones virales crónicas. El curso clínico es variable pero, por lo general, indolente. Con frecuencia, los pacientes están asintomáticos, aunque pueden presentar manifestaciones clínicas que incluyen vasculitis cutánea, infecciones por neutropenia síntomas musculo esqueléticos, neuropatía periférica o esplenomegalia."},"it":{"name":"Malattia linfoproliferativa cronica delle cellule natural killer","synonyms":["CLPD-NK","CNKL","Disordine linfoproliferativo cronico delle cellule NK","Disordine proliferativo dei linfociti granulari della linea delle cellule NK","Linfocitosi cronica delle cellule NK","NK linfocitosi cronica"],"definition":"Si tratta di una leucemia rara a grandi linfociti granulari, caratterizzata da linfocitosi persistente (oltre i 6 mesi) delle cellule natural killer, in assenza di una diagnosi clinica di leucemia/linfoma, malattia autoimmune o infezione virale cronica. Il decorso clinico è variabile, ma in genere è silente. Spesso i pazienti sono asintomatici, oppure presentano alcuni segni clinici, che comprendono le lesioni cutanee vascolari, le infezioni neutropeniche, i sintomi muscoloscheletrici, la neuropatia periferica e la splenomegalia."},"nl":{"name":"Chronische lymfoproliferatieve stoornis van natuurlijke killercellen","synonyms":["CLPD-NK","CNKL","Chronische NK-cellymfocytose","Chronische NK-lymfocytose","Chronische lymfoproliferatieve aandoening van NK-cellen","Proliferatieve aandoening van granulaire lymfocyten van NK-cellijn"],"definition":"Een zeldzame leukemie van grote granulaire lymfocyten, gekarakteriseerd door persisterende (langer dan 6 maanden) lymfocytose van natuurlijke killercellen in afwezigheid van diagnose van leukemie/lymfoom, auto-immuunziekte, of chronische virale infectie. Het klinisch verloop is variabel, maar doorgaans indolent. Patiënten blijven vaak asymptomatisch, of vertonen klinische manifestaties als huidlaesies door vasculitis, neutropene infecties, musculoskeletale symptomen, perifere neuropathie, of splenomegalie."},"pt":{"name":"Doença linfoproliferativa crónica das célualas NK"},"pl":{"name":"Przewlekła choroba limfoproliferacyjna z limfocytów typu \"naturalni zabójcy","synonyms":["CNKL","CLPD-NK","Przewlekła limfocytoza NK","Przewlekła limfocytoza z komórek NK","Przewlekła choroba limfoproliferacyjna z komórek NK","Choroba proliferacyjna limfocytów ziarnistych z linii NK"]},"cs":{"name":"Chronická proliferativní porucha granulárních lymfocytů z NK buněčné linie","synonyms":["CNKL","CLPD-NK","Chronická lymfocytóza NK buněk","Chronická lymfoproliferativní porucha NK buněk","Proliferativní porucha granulárních lymfocytů z NK buněčné linie"]},"uk":{"name":"Хронічне лімфопроліферативне захворювання природних кілерів","synonyms":["Хронічне лімфопроліферативне захворювання NK-клітин","Хронічний NK-лімфоцитоз","Хронічний NK-клітинний лімфоцитоз","CLPD-NK","CNKL","Порушення проліферації гранулярних лімфоцитів NK-клітинної лінії"],"definition":"A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly."},"zh":{"name":"慢性自然杀伤细胞性淋巴增殖障碍","synonyms":["自然杀伤细胞谱系性颗粒淋巴增殖障碍"],"definition":"一种罕见的大颗粒淋巴细胞白血病，其特点是在没有临床诊断为白血病/淋巴瘤、自身免疫性疾病或慢性病毒感染的情况下，出现持续性（ inf 6个月）自然杀伤细胞性淋巴细胞增多。临床病程多变，但一般不稳定。患者常无症状，或可出现血管性皮肤病变、中性粒细胞减少症性感染、肌肉骨骼症状、周围神经病变或脾肿大等临床表现。"},"tr":{"name":"Doğal öldürücü hücrelerin kronik lenfoproliferatif bozukluğu","synonyms":["CNKL","CLPD-NK","Kronik NK lenfositoz","Kronik NK hücreli lenfositoz","NK hücrelerinin kronik lenfoproliferatif bozukluğu","NK hücre soyu granüler lenfosit proliferatif bozukluğu"]}},"xrefs":[{"source":"ICD-10","code":"C91.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A90.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"921755282"},{"source":"MONDO","code":"0004234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1512709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":512034,"name":"Large granular lymphocyte leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"STAT3","name":"signal transducer and activator of transcription 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29385279[PMID]","hgnc":"11364","ensembl":"ENSG00000168610","omim":"102582","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}