{"orpha":447731,"name":"NIK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary immunodeficiency with multifaceted aberrant lymphoid immunity"],"definition":"A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447731/","orphanet_url":"https://www.orpha.net/en/disease/detail/447731","names":{"fr":{"name":"Déficit en NIK","definition":"Déficit immunitaire primaire combiné T et B rare et génétique, caractérisé par des infections sévères et récurrentes d'origine virale et bactérienne. Les tests immunologiques montrent une baisse des taux d'immunoglobulines, une diminution du nombre de cellules B et NK, une baisse du nombre relatif de cellules B CD19+ dans le sang périphérique, une altération de la réponse mémoire aux infections virales et une prolifération défectueuse des cellules T spécifiques pour l'antigène"},"de":{"name":"NIK-Mangel","synonyms":["NIK-Defekt","NIK-Defizienz","Primärer Immundefekt mit vielfältiger Störung der lymphoiden Immunität"],"definition":"Ein primärer kombinierter T- und B-Zellimmundefekt, der durch wiederkehrende, schwere virale und bakterielle Infektionen gekennzeichnet ist. Zu den immunologischen Befunden gehören verringerte Immunglobulinspiegel, verringerte Anzahl von B- und NK-Zellen, verringerte relative CD19+ B-Zellen im peripheren Blut, beeinträchtigte Gedächtnisantworten auf Virusinfektionen und gestörte antigenspezifische T-Zellproliferation."},"es":{"name":"Deficiencia de NIK","synonyms":["Inmunodeficiencia primaria con inmunidad linfocitaria aberrante multifacética"],"definition":"Es una inmunodeficiencia primaria combinada de células T y B, genética y poco frecuente, caracterizada por infecciones virales y bacterianas graves y recurrentes. Los hallazgos inmunológicos incluyen disminución de los niveles de inmunoglobulina, del número de células B y NK con una relativa reducción de células B CD19+ en sangre periférica, alteración de las respuestas de memoria frente a infecciones virales y proliferación defectuosa de las células T específicas de antígeno."},"it":{"name":"Deficit di NIK","synonyms":["Immunodeficienza primitiva con immunità linfocitaria aberrante multiforme"],"definition":"È un'immunodeficienza primitiva combinata rara delle cellule T e B, di origine genetica, caratterizzata da infezioni virali e batteriche gravi ricorrenti. I test immunologici evidenziano livelli bassi di immunoglobuline, un ridotto numero di cellule B e NK, una relativa riduzione delle cellule CD19+ B nel sangue periferico, una compromissione della risposta della memoria immunologica alle infezioni virali, e difetti nella proliferazione delle cellule T antigene-specifiche."},"nl":{"name":"NIK-deficiëntie","synonyms":["Primaire immuundeficiëntie met verscheiden afwijkende lymfoïde immuniteit"],"definition":"Een zeldzame, genetische, primaire gecombineerde T- en B-cel-immuundeficiëntie, gekarakteriseerd door recurrente, ernstige virale en bacteriële infecties. Immunologische bevindingen omvatten verlaagde immunoglobulinegehaltes, verlaagd aantal B- en NK-cellen, relatieve vermindering van het aantal CD19+ B-cellen in perifeer bloed, verstoord immuungeheugen bij virale infecties en defecte antigeen-specifieke proliferatie van T-cellen."},"pt":{"name":"Défice de NIK"},"pl":{"name":"Niedobór NIK","synonyms":["Primary immunodeficiency with multifaceted aberrant lymphoid immunity"]},"cs":{"name":"Deficit NIK","synonyms":["Primární imunodeficience s multifacetovou odchylkou lymfatické imunity"]},"uk":{"name":"Дефіцит NIK","synonyms":["Первинний імунодефіцит з багатогранним аберантним лімфоїдним імунітетом"],"definition":"A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation."},"zh":{"name":"NIK缺乏症","synonyms":["合并多种淋巴免疫异常的原发性免疫缺陷病"],"definition":"罕见的，遗传的，原发性的合并的T和B细胞免疫缺陷，特征是反复发作，严重的病毒和细菌感染。免疫学发现包括免疫球蛋白水平降低，外周血B和NK细胞数量减少，外周血CD19 + B相对细胞减少，对病毒感染的记忆反应受损以及抗原特异性T细胞增殖缺陷。"},"tr":{"name":"NIK eksikliği","synonyms":["Multi anormal lenfoid bağışıklığı ile seyreden primer immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"620449","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680065","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"MAP3K14","name":"mitogen-activated protein kinase kinase kinase 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25406581[PMID]","hgnc":"6853","ensembl":"ENSG00000006062","omim":"604655","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25406581[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25406581[PMID]"}],"phenotypes":null}