{"orpha":538931,"name":"X-linked lymphoproliferative disease due to SAP deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency","X-linked lymphoproliferative syndrome type 1","XLP1","X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency","X-linked lymphoproliferative disease due to SH2D1A deficiency"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>SH2D1A</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538931/","orphanet_url":"https://www.orpha.net/en/disease/detail/538931","names":{"fr":{"name":"Maladie lymphoproliférative liée à l'X par déficit en SAP","synonyms":["Maladie lymphoproliférative liée à l'X par déficit en SH2D1A","Maladie lymphoproliférative liée à l'X par déficit en protéine SH2 domain containing 1A","Maladie lymphoproliférative liée à l'X par déficit en protéine Signaling lymphocyte activation molecule-associated protein","Maladie lymphoproliférative liée à l'X type 1","Syndrome lymphoprolifératif lié à l'X type 1","XLP1"],"definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par une réponse immunitaire anormale à une infection par le virus d'Epstein-Barr (EBV), dû à des mutations hémizygotes du gène <i>SH2D1A</i> lié à l'X, à l'origine d'une prolifération de lymphocytes B et se manifestant par divers phénotypes dont une mononucléose fulminante ou sévère à virus EBV, une lymphohistiocytose hémophagocytaire (à type d'hépatite fulminante, de nécrose hépatique, d'hypoplasie de la moelle osseuse et d'atteinte neurologique), d'hypogammaglobulinémie et de lymphome à cellules B. Parmi les autres manifestations, inconstantes, figurent vascularite, granulomatose lymphomatoïde, anémie aplasique et gastrite chronique. Dans de rares cas, un lymphome à cellules T peut être observé. Les analyses biologiques mettent en évidence un taux normal ou accru de lymphocytes T activés et un taux réduit de lymphocytes B à mémoire."},"de":{"name":"X-chromosomales lymphoproliferatives Syndrom durch SAP-Mangel","synonyms":["SAP-Defizienz","X-chromosomale lymphoproliferative Störung durch Defizienz des SLAM-assoziierten Proteins","X-chromosomales lymphoproliferatives Syndrom Typ 1","X-chromosomales lymphoproliferatives Syndrom durch SH2D1A-Mangel","XLP1"],"definition":"Eine seltener, genetisch bedingter, primärer Immundefekt, der durch eine gestörte Immunantwort auf eine Infektion mit dem Epstein-Barr-Virus (EBV) gekennzeichnet ist. Ursächlich sind hemizygote Mutationen im X-chromosomalen <i>SH2D1A</i>-Gen, die zu einer Lymphoproliferation der B-Zellen führen und variable Phänotypen verursachen. Das Syndrom kann sich mit einer EBV-bedingten schweren oder fulminanten Mononukleose, hämophagozytischer Lymphohistiozytose (mit fulminanter Hepatitis, Lebernekrose, Knochenmarkshypoplasie und neurologischer Beteiligung), Hypogammaglobulinämie und B-Zell-Lymphom manifestieren. Weitere variable Merkmale sind Vaskulitis, lymphomatoide Granulomatose, aplastische Anämie und chronische Gastritis. Gelegentlich kann ein T-Zell-Lymphom beobachtet werden. Zu den Laborbefunden gehören normale oder erhöhte aktivierte T-Zellen und reduzierte Anzahl an B-Gedächtniszellen."},"es":{"name":"Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de SAP","synonyms":["Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de SH2D1A","Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de la proteína asociada a la molécula linfocitaria activadora de señales","Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia del dominio SH2 que contiene la proteína 1A","Síndrome linfoproliferativo ligado al cromosoma X tipo 1","XLP1"],"definition":"Es una inmunodeficiencia primaria de causa genética y poco frecuente caracterizada por una respuesta inmune anómala al virus de Epstein-Barr (VEB) causada por mutaciones en homocigosis en el gen <i>SH2D1A</i> ligado al cromosoma X. Dicha alteración resulta en linfoproliferación de células B que se manifiesta con varios fenotipos que incluyen la mononucleosis grave o fulminante causada por EBV, linfohistiocitosis hemofagocítica (que se presenta con hepatitis fulminante, necrosis hepática, hipoplasia medular y afectación neurológica), hipogammaglobulinemia y linfoma de células B. Otras manifestaciones variables adicionales incluyen vasculitis, granulomatosis linfomatoide, anemia aplásica y gastritis crónica. Ocasionalmente, se puede observar linfoma de células T. Los hallazgos de laboratorio incluyen niveles normales o aumentados de células T activadas y niveles reducidos de células B de memoria."},"it":{"name":"Malattia linfoproliferativa legata all'X da deficit di SAP","synonyms":["Malattia linfoproliferativa legata all'X da deficit della proteina 1A contenente il dominio SH2","Malattia linfoproliferativa legata all'X da deficit della proteina associata alla molecola di segnalazione dell'attivazione dei linfociti","Malattia linfoproliferativa legata all'X da deficit di SH2D1A","Malattia linfoproliferativa legata all'X tipo 1","XLP1"],"definition":"Si tratta di un'immunodeficienza primitiva genetica rara, caratterizzata da una risposta immunitaria anomala all'infezione da virus di Epstein-Barr (EBV), causata da mutazioni emizigoti nel gene SH2D1A correlato all'X, che esitano nella linfoproliferazione delle cellule B. La malattia esordisce con diversi fenotipi, che comprendono la mononucleosi grave o fulminante indotta da EBV, la linfoistiocitosi emofagocitica (che si manifesta con epatite fulminante, necrosi epatica, ipoplasia del midollo osseo e interessamento neurologico), l'ipogammaglobulinemia e il linfoma a cellule B. Altri segni clinici variabili sono la vasculite, la granulomatosi linfomatoide, l'anemia aplastica e la gastrite cronica. Occasionalmente si associa al linfoma a cellule T. Gli esami di laboratorio evidenziano un numero normale o aumentato di cellule T attivate, e una riduzione dei linfociti B della memoria."},"nl":{"name":"X-gebonden lymfoproliferatieve ziekte door SAP-deficiëntie","synonyms":["X-gebonden lymfoproliferatief syndroom type 1","X-gebonden lymfoproliferatieve ziekte door SH2D1A-deficiëntie","X-gebonden lymfoproliferatieve ziekte door deficiëntie van 'SH2 domain containing 1A'-proteïne","X-gebonden lymfoproliferatieve ziekte door deficiëntie van 'Signaling lymphocyte activation molecule'-geassocieerd proteïne","XLP1"],"definition":"Een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door een abnormale immuunrespons op infectie met Epstein-Barrvirus (EBV), die veroorzaakt wordt door hemizygote mutaties in het X-gebonden gen <i>SH2D1A</i> wat leidt tot lymfoproliferatie van B-cellen, en die zich manifesteert met verschillende fenotypes waaronder door EBV veroorzaakte ernstige of fulminante mononucleose, hemofagocytaire lymfohistiocytose (die zich presenteert met fulminante hepatitis, levernecrose, hypoplasie van het beenmerg, en neurologische betrokkenheid), hypogammaglobulinemie, en B-cellymfoom. Bijkomende variabele manifestaties zijn onder meer vasculitis, lymfomatoïde granulomatose, aplastische anemie, en chronische gastritis. Occasioneel kan T-cellymfoom waargenomen worden. Laboratoriumbevindingen omvatten normaal of verhoogd aantal geactiveerde T-cellen en verlaagd aantal B-geheugencellen."},"pt":{"name":"Doença linfoproliferativa ligada ao X devido a deficiência SAP","synonyms":["Doença linfoproliferativa ligada ao X devido a deficiência SH2D1A","Doença linfoproliferativa ligada ao X devido a deficiência XIAP","Doença linfoproliferativa ligada ao X devido a deficiência do domínio SH2 que contem a proteína 1A","Doença linfoproliferativa ligada ao X devido à deficiência de proteína associada à molécula de ativação de linfócitos de sinalização","XLP1"],"definition":"Doença genética, rara, de imunodeficiência primária caracterizada por uma resposta imune anómala à infeção pelo vírus Epstein-Barr (EBV), causada por mutações hemizigóticas no gene SH2D1A ligado ao cromossoma X, que resulta em linfoproliferação de células B. A apresentação clínica manifesta-se sob a forma de vários fenótipos que incluem EBV-mononucleose grave ou fatal, linfohistiocitose hemofagocítica (hepatite fatal, necrose hepática, hipoplasia da medula óssea e envolvimento neurológico), hipogamaglobulinemia e linfoma de células B. Outras manifestações clínicas são variáveis e &#8203;&#8203;incluem vasculite, granulomatose linfomatoide, anemia aplástica e gastrite crónica. Ocasionalmente, pode ocorrer linfoma de células T. A avaliação laboratorial revela a presença de células T ativadas (em número normal ou elevado) e células B de memória reduzidas."},"pl":{"name":"Choroba limfoproliferacyjna sprzężona z chromosomem X spowodowana niedoborem SAP","synonyms":["X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency","X-linked lymphoproliferative syndrome type 1","XLP1","X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency","X-linked lymphoproliferative disease due to SH2D1A deficiency"]},"cs":{"name":"X-vázané lymfoproliferativní onemocnění způsobené deficitem SH2D1A","synonyms":["XLP1","SAP deficit","Deficit proteinu související s SH2D1A/SLAM","X-vázaný lymfoproliferativní syndrom, typ 1"]},"uk":{"name":"Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SAP","synonyms":["Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SH2 домену, що містить білок 1A","Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SH2D1A","Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом білка, асоційованого з сигнальною молекулою активації лімфоцитів","Х-зчеплений лімфопроліферативний синдром, тип 1","XLP1"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>SH2D1A</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells."},"zh":{"name":"SH2D1A基因缺陷诱导的X连锁淋巴组织增生性疾病","synonyms":["X连锁淋巴组织增生综合征1型"],"definition":"一种罕见的遗传性原发性免疫缺陷病，其特征是对EB病毒（EBV）感染的异常免疫反应，由X染色体连锁 SH2D1A基因的半合子突变引起。导致B细胞淋巴增生，并表现出各种不同的表型，包括EBV驱动的重度或暴发性单核细胞增多症、嗜血细胞性淋巴组织细胞增多症（表现为暴发性肝炎、肝坏死、骨髓发育不全和神经系统受累）、高丙种球蛋白血症和B细胞淋巴瘤。其他易变的表现包括血管炎、淋巴肉芽肿、再生障碍性贫血和慢性胃炎。偶尔可观察到T细胞淋巴瘤。实验室检查结果包括活化T细胞正常或增加，记忆B细胞减少。"},"tr":{"name":"SH2D1A eksikliğine bağlı X'e bağlı lenfoproliferatif hastalık","synonyms":["XLP1","SAP eksikliği","SH2D1A/SLAM ilişkili protein eksikliği","X'e bağlı lenfoproliferatif sendrom tip 1"]}},"xrefs":[{"source":"OMIM","code":"308240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"16175695"},{"source":"MONDO","code":"0024551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":2442,"name":"X-linked lymphoproliferative disease","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SH2D1A","name":"SH2 domain containing 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301580[PMID]_28196537[PMID]","hgnc":"10820","ensembl":"ENSG00000183918","omim":"300490","loci":["Xq25"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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}