{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:53:52Z","timestamp":1790027632605,"version":"4.0.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T00:00:00Z","timestamp":1670371200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T00:00:00Z","timestamp":1670371200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["3115\/19"],"award-info":[{"award-number":["3115\/19"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["3115\/19"],"award-info":[{"award-number":["3115\/19"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["1505\/18"],"award-info":[{"award-number":["1505\/18"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1007\/s10875-022-01412-4","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T04:37:05Z","timestamp":1670387825000},"page":"625-635","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma"],"prefix":"10.1007","volume":"43","author":[{"given":"Atar","family":"Lev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdi","family":"Asleh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiran","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Nee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amos J.","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Nalbandyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Nahum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Ben-Harosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Yablonski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnon","family":"Broides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6648-9425","authenticated-orcid":false,"given":"Raz","family":"Somech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,7]]},"reference":[{"key":"1412_CR1","doi-asserted-by":"crossref","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473\u2013507.","DOI":"10.1007\/s10875-022-01289-3"},{"key":"1412_CR2","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.3389\/fimmu.2018.01103","volume":"9","author":"S Latour","year":"2018","unstructured":"Latour S, Winter S. Inherited immunodeficiencies with high predisposition to Epstein-Barr virus-driven lymphoproliferative diseases. Front Immunol. 2018;9:1103.","journal-title":"Front Immunol"},{"issue":"10","key":"1412_CR3","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1038\/nrc1452","volume":"4","author":"LS Young","year":"2004","unstructured":"Young LS, Rickinson AB. Epstein-Barr virus: 40 years on. Nat Rev Cancer. 2004;4(10):757\u201368.","journal-title":"Nat Rev Cancer"},{"issue":"19","key":"1412_CR4","doi-asserted-by":"publisher","first-page":"4002","DOI":"10.1182\/blood-2009-07-143545","volume":"114","author":"HE Heslop","year":"2009","unstructured":"Heslop HE. How I treat EBV lymphoproliferation. Blood. 2009;114(19):4002\u20138.","journal-title":"Blood"},{"issue":"18","key":"1412_CR5","doi-asserted-by":"publisher","first-page":"3398","DOI":"10.1182\/blood-2010-03-275909","volume":"116","author":"AH Filipovich","year":"2010","unstructured":"Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010;116(18):3398\u2013408.","journal-title":"Blood"},{"issue":"2","key":"1412_CR6","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1084\/jem.20161846","volume":"214","author":"SG Tangye","year":"2017","unstructured":"Tangye SG, Palendira U, Edwards ES. Human immunity against EBV-lessons from the clinic. J Exp Med. 2017;214(2):269\u201383.","journal-title":"J Exp Med"},{"issue":"4","key":"1412_CR7","doi-asserted-by":"publisher","first-page":"a002501","DOI":"10.1101\/cshperspect.a002501","volume":"2","author":"MS Jordan","year":"2010","unstructured":"Jordan MS, Koretzky GA. Coordination of receptor signaling in multiple hematopoietic cell lineages by the adaptor protein SLP-76. Cold Spring Harb Perspect Biol. 2010;2(4):a002501.","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"5","key":"1412_CR8","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1016\/j.jaci.2013.01.020","volume":"131","author":"LD Notarangelo","year":"2013","unstructured":"Notarangelo LD. Partial defects of T-cell development associated with poor T-cell function. J Allergy Clin Immunol. 2013;131(5):1297\u2013305.","journal-title":"J Allergy Clin Immunol"},{"key":"1412_CR9","doi-asserted-by":"crossref","unstructured":"Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, et al. Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med.\u00a02021;218(3):e20201062.","DOI":"10.1084\/jem.20201062"},{"key":"1412_CR10","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.3389\/fimmu.2019.01704","volume":"10","author":"D Yablonski","year":"2019","unstructured":"Yablonski D. Bridging the gap: modulatory roles of the Grb2-family adaptor, gads, in cellular and allergic immune responses. Front Immunol. 2019;10:1704.","journal-title":"Front Immunol"},{"issue":"1","key":"1412_CR11","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/nri1750","volume":"6","author":"GA Koretzky","year":"2006","unstructured":"Koretzky GA, Abtahian F, Silverman MA. SLP76 and SLP65: complex regulation of signalling in lymphocytes and beyond. Nat Rev Immunol. 2006;6(1):67\u201378.","journal-title":"Nat Rev Immunol"},{"issue":"2","key":"1412_CR12","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1203\/PDR.0b013e3181c6e554","volume":"67","author":"N Amariglio","year":"2010","unstructured":"Amariglio N, Lev A, Simon A, Rosenthal E, Spirer Z, Efrati O, et al. Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency. Pediatr Res. 2010;67(2):211\u20136.","journal-title":"Pediatr Res"},{"issue":"1","key":"1412_CR13","doi-asserted-by":"publisher","first-page":"e30494","DOI":"10.1371\/journal.pone.0030494","volume":"7","author":"A Lev","year":"2012","unstructured":"Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, et al. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS One. 2012;7(1):e30494.","journal-title":"PLoS One"},{"issue":"5","key":"1412_CR14","doi-asserted-by":"publisher","first-page":"e0252428","DOI":"10.1371\/journal.pone.0252428","volume":"16","author":"R Trefzer","year":"2021","unstructured":"Trefzer R, Elpeleg O, Gabrusskaya T, Stepensky P, Mor-Shaked H, Grosse R, et al. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease. PLoS One. 2021;16(5):e0252428.","journal-title":"PLoS One"},{"issue":"10","key":"1412_CR15","doi-asserted-by":"publisher","first-page":"3780","DOI":"10.1182\/blood.V92.10.3780","volume":"92","author":"WS Pear","year":"1998","unstructured":"Pear WS, Miller JP, Xu L, Pui JC, Soffer B, Quackenbush RC, et al. Efficient and rapid induction of a chronic myelogenous leukemia-like myeloproliferative disease in mice receiving P210 bcr\/abl-transduced bone marrow. Blood. 1998;92(10):3780\u201392.","journal-title":"Blood"},{"issue":"5375","key":"1412_CR16","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1126\/science.281.5375.413","volume":"281","author":"D Yablonski","year":"1998","unstructured":"Yablonski D, Kuhne MR, Kadlecek T, Weiss A. Uncoupling of nonreceptor tyrosine kinases from PLC-gamma1 in an SLP-76-deficient T cell. Science. 1998;281(5375):413\u20136.","journal-title":"Science"},{"key":"1412_CR17","doi-asserted-by":"crossref","unstructured":"Sukenik S, Frushicheva MP, Waknin-Lellouche C, Hallumi E, Ifrach T, Shalah R, et al. Dimerization of the adaptor Gads facilitates antigen receptor signaling by promoting the cooperative binding of Gads to the adaptor LAT. Sci Signal. 2017;10(498):eaal1482.","DOI":"10.1126\/scisignal.aal1482"},{"issue":"5","key":"1412_CR18","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1084\/jem.160.5.1284","volume":"160","author":"A Weiss","year":"1984","unstructured":"Weiss A, Stobo JD. Requirement for the coexpression of T3 and the T cell antigen receptor on a malignant human T cell line. J Exp Med. 1984;160(5):1284\u201399.","journal-title":"J Exp Med"},{"issue":"9","key":"1412_CR19","doi-asserted-by":"publisher","first-page":"2173","DOI":"10.3324\/haematol.2021.280257","volume":"107","author":"ME Dourthe","year":"2022","unstructured":"Dourthe ME, Phulpin A, Auperin A, Bosq J, Couec ML, Dartigues P, et al. Rituximab in addition to LMB-based chemotherapy regimen in children and adolescents with primary mediastinal large B-cell lymphoma: results of the French LMB2001 prospective study. Haematologica. 2022;107(9):2173\u201382.","journal-title":"Haematologica"},{"issue":"20","key":"1412_CR20","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1182\/blood-2016-01-643569","volume":"127","author":"SH Swerdlow","year":"2016","unstructured":"Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016;127(20):2375\u201390.","journal-title":"Blood"},{"issue":"6\u20137","key":"1412_CR21","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1007\/s00439-020-02145-3","volume":"139","author":"SG Tangye","year":"2020","unstructured":"Tangye SG. Genetic susceptibility to EBV infection: insights from inborn errors of immunity. Hum Genet. 2020;139(6\u20137):885\u2013901.","journal-title":"Hum Genet"},{"key":"1412_CR22","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.coi.2014.10.003","volume":"31","author":"LD Notarangelo","year":"2014","unstructured":"Notarangelo LD. Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling. Curr Opin Immunol. 2014;31:97\u2013101.","journal-title":"Curr Opin Immunol"},{"key":"1412_CR23","doi-asserted-by":"publisher","first-page":"831","DOI":"10.3389\/fimmu.2020.00831","volume":"11","author":"N Sharifinejad","year":"2020","unstructured":"Sharifinejad N, Jamee M, Zaki-Dizaji M, Lo B, Shaghaghi M, Mohammadi H, et al. Clinical, immunological, and genetic features in 49 patients with ZAP-70 deficiency: a systematic review. Front Immunol. 2020;11:831:1\u201310.","journal-title":"Front Immunol"},{"issue":"2","key":"1412_CR24","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.jaci.2010.09.016","volume":"127","author":"A Newell","year":"2011","unstructured":"Newell A, Dadi H, Goldberg R, Ngan BY, Grunebaum E, Roifman CM. Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. J Allergy Clin Immunol. 2011;127(2):517\u201320.","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"1412_CR25","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1093\/infdis\/jiy231","volume":"218","author":"A Hoshino","year":"2018","unstructured":"Hoshino A, Takashima T, Yoshida K, Morimoto A, Kawahara Y, Yeh TW, et al. Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation. J Infect Dis. 2018;218(5):825\u201334.","journal-title":"J Infect Dis"},{"issue":"8","key":"1412_CR26","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1007\/s10875-014-0110-8","volume":"34","author":"S Ghosh","year":"2014","unstructured":"Ghosh S, Bienemann K, Boztug K, Borkhardt A. Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. J Clin Immunol. 2014;34(8):892\u20139.","journal-title":"J Clin Immunol"},{"issue":"5","key":"1412_CR27","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1172\/JCI37901","volume":"119","author":"K Huck","year":"2009","unstructured":"Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest. 2009;119(5):1350\u20138.","journal-title":"J Clin Invest"},{"issue":"9","key":"1412_CR28","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1182\/blood.2019000928","volume":"135","author":"SG Tangye","year":"2020","unstructured":"Tangye SG, Latour S. Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection. Blood. 2020;135(9):644\u201355.","journal-title":"Blood"},{"issue":"7","key":"1412_CR29","doi-asserted-by":"publisher","first-page":"1185","DOI":"10.1084\/jem.20151110","volume":"213","author":"B Keller","year":"2016","unstructured":"Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, et al. Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. J Exp Med. 2016;213(7):1185\u201399.","journal-title":"J Exp Med"},{"issue":"6","key":"1412_CR30","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1007\/s10875-018-0537-4","volume":"38","author":"OM Delmonte","year":"2018","unstructured":"Delmonte OM, Schuetz C, Notarangelo LD. RAG deficiency: two genes, many diseases. J Clin Immunol. 2018;38(6):646\u201355.","journal-title":"J Clin Immunol"},{"issue":"4","key":"1412_CR31","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.4049\/jimmunol.159.4.1639","volume":"159","author":"MA Musci","year":"1997","unstructured":"Musci MA, Motto DG, Ross SE, Fang N, Koretzky GA. Three domains of SLP-76 are required for its optimal function in a T cell line. J Immunol. 1997;159(4):1639\u201347.","journal-title":"J Immunol"},{"issue":"5","key":"1412_CR32","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/j.jaci.2003.07.003","volume":"112","author":"WT Shearer","year":"2003","unstructured":"Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973\u201380.","journal-title":"J Allergy Clin Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01412-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-022-01412-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01412-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T08:24:40Z","timestamp":1677227080000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-022-01412-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,7]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["1412"],"URL":"https:\/\/doi.org\/10.1007\/s10875-022-01412-4","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,7]]},"assertion":[{"value":"2 October 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The Institutional Review Board (Sheba Medical Center, Israel) approved this study, and all the procedures were performed in accordance with the Helsinki declaration.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"A written informed consent was obtained from the parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}