{"orpha":538963,"name":"Combined immunodeficiency due to ITK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive lymphoproliferative disease due to ITK deficiency","ITK deficiency"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538963/","orphanet_url":"https://www.orpha.net/en/disease/detail/538963","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en ITK","synonyms":["Déficit en ITK","Immunodéficience combinée par déficit en ITK","Maladie lymphoproliférative autosomique récessive par déficit en ITK"],"definition":"Immunodéficience primaire récessive autosomique rare caractérisée par une prédisposition aux maladies lymphoprolifératives liées au virus Epstein-Barr (EBV), telles que la prolifération maligne des cellules B, le lymphome de Hodgkin, le lymphome à cellules B, la granulomatose lymphomatoïde, la lymphohistiocytose hémophagocytaire et la tumeur musculaire lisse. Les patients présentent des symptômes persistants de mononucléose infectieuse, notamment des épisodes fébriles récurrents, des lymphadénopathies et une hépatosplénomégalie, accompagnés d'une charge virale EBV élevée dans le sang. D'autres manifestations sont les maladies auto-immunes, telles que l'anémie hémolytique ou la maladie rénale."},"de":{"name":"Immundefekt, kombinierter, durch ITK-Mangel","synonyms":["Autosomal-rezessives lymphoproliferatives Syndrom durch ITK-Defekt","ITK-Defizienz","ITK-Mangel"],"definition":"Ein seltener autosomal rezessiver primärer Immundefekt, der durch eine Anfälligkeit für Epstein-Barr-Virus (EBV)-assoziierte lymphoproliferative Erkrankungen wie maligne B-Zell-Proliferation, Hodgkin-Lymphom, B-Zell-Lymphom, lymphoide Granulomatose, hämophagozytäre Lymphohistiozytose und Tumor der glatten Muskulatur gekennzeichnet ist. Die Patienten zeigen anhaltende Symptome einer infektiösen Mononukleose, einschließlich rezidivierender Fieberschübe, Lymphadenopathien und Hepatosplenomegalie, begleitet von einer hohen EBV-Viruslast im Blut. Weitere Manifestationen sind Autoimmunerkrankungen wie hämolytische Anämie oder Nierenerkrankungen."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de ITK","synonyms":["Deficiencia de ITK","Enfermedad linfoproliferativa autosómica recesiva por deficiencia de ITK"],"definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por susceptibilidad al desarrollo de trastornos linfoproliferativos asociados al virus de Epstein-Barr (VEB), tales como la proliferación maligna de células B, el linfoma de Hodgkin, el linfoma de células B, la granulomatosis linfoide, la linfohistiocitosis hemofagocítica y los tumores de músculos lisos.Los pacientes presentan síntomas persistentes de mononucleosis infecciosa que incluyen episodios febriles recurrentes, linfadenopatías y hepatoesplenomegalia, acompañados de una carga viral elevada de VEB en sangre. Otras manifestaciones incluyen enfermedades autoinmunes como la anemia hemolítica o la enfermedad renal."},"it":{"name":"Immunodeficienza combinata da deficit di ITK","definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica recessiva, caratterizzata dalla suscettibilità alle malattie linfoproliferative correlate al virus di Epstein-Barr (EBV), e dalla proliferazione di cellule B maligne, dal linfoma di Hodgkin, dal linfoma a cellule B, dalla granulomatosi linfoide, dalla linfoistiocitosi emofagocitica e dal tumore della muscolatura liscia. I pazienti presentano i sintomi persistenti della mononucleosi infettiva, compresi gli episodi febbrili ricorrenti, la linfoadenopatia e l'epatosplenomegalia, associati ad un'elevata carica virale di EBV nel sangue. I pazienti possono presentare anche malattie autoimmuni come l'anemia emolitica e la malattia renale."},"nl":{"name":"Gecombineerde immuundeficiëntie door ITK-deficiëntie","synonyms":["ITK-deficiëntie","Autosomaal recessieve lymfoproliferatieve ziekte door ITK-deficiëntie"],"definition":"Een zeldzame autosomaal recessieve primaire immuundeficiëntie, gekarakteriseerd door susceptibiliteit voor Epstein-Barr-virus (EBV)-geassocieerde lymfoproliferatieve aandoeningen, zoals proliferatie van maligne B-cellen, Hodgkinlymfoom, B-cellymfoom, lymfoïde granulomatose, hemofagocytaire lymfohistiocytose, en tumor van gladde spier. Patiënten vertonen persisterende symptomen van infectieuze mononucleose, waaronder recidiverende febriele episodes, lymfadenopathie en hepatosplenomegalie, vergezeld van hoge virale lading van EBV in bloed. Bijkomende manifestaties zijn auto-immuunziekten zoals hemolytische anemie of nierziekte."},"pt":{"name":"Imunodeficiência combinada por deficiência de ITK"},"pl":{"name":"Złożony niedobór odporności z powodu deficytu ITK","synonyms":["Autosomal recessive lymphoproliferative disease due to ITK deficiency"]},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem ITK","synonyms":["ITK deficit","Autozomálně recesivní lymfoproliferativní onemocnění způsobené deficitem ITK"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом ІТК","synonyms":["Аутосомно-рецесивне лімфопроліферативне захворювання, зумовлене дефіцитом ІТК","Дефіцит ІТК"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease."},"zh":{"name":"ITK基因缺陷诱导的联合免疫缺陷","synonyms":["ITK基因缺陷导致的常染色体隐性淋巴细胞增殖症"],"definition":"一种罕见的常染色体隐性原发性免疫缺陷，其特点是易感EB病毒（EBV）相关的淋巴增生性疾病，如恶性B细胞增生、霍奇金淋巴瘤、B细胞淋巴瘤、淋巴肉芽肿、嗜血细胞性淋巴组织细胞增多和平滑肌瘤。患者出现持续性的感染性单核细胞增多症状，包括反复发热、淋巴结病和肝脾肿大，同时血中EBV病毒载量高。其他表现还有溶血性贫血或肾脏病等自身免疫性疾病。"},"tr":{"name":"ITK eksikliğine bağlı kombine immün yetmezlik","synonyms":["ITK eksikliği","ITK eksikliğine bağlı otozomal Çekinik lenfoproliferatif hastalık"]}},"xrefs":[{"source":"OMIM","code":"613011","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3552634","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]},{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"ITK","name":"IL2 inducible T cell kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19425169[PMID]","hgnc":"6171","ensembl":"ENSG00000113263","omim":"186973","loci":["5q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"29942301[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29942301[PMID]"}],"phenotypes":null}