{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:56:16Z","timestamp":1790650576140,"version":"4.1.0"},"reference-count":159,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,6,4]],"date-time":"2018-06-04T00:00:00Z","timestamp":1528070400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2018.01103","type":"journal-article","created":{"date-parts":[[2018,6,4]],"date-time":"2018-06-04T09:30:59Z","timestamp":1528104659000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":116,"title":["Inherited Immunodeficiencies With High Predisposition to Epstein\u2013Barr Virus-Driven Lymphoproliferative Diseases"],"prefix":"10.3389","volume":"9","author":[{"given":"Sylvain","family":"Latour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,6,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"107fs107","DOI":"10.1126\/scitranslmed.3002878","article-title":"Epstein-Barr virus: an important vaccine target for cancer prevention","volume":"3","author":"Cohen","year":"2011","journal-title":"Sci Transl Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1146\/annurev.immunol.25.022106.141553","article-title":"Cellular responses to viral infection in humans: lessons from Epstein-Barr virus","volume":"25","author":"Hislop","year":"2007","journal-title":"Annu Rev Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1146\/annurev-immunol-032414-112326","article-title":"The immunology of Epstein-Barr virus-induced disease","volume":"33","author":"Taylor","year":"2015","journal-title":"Annu Rev Immunol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1658","DOI":"10.3389\/fimmu.2017.01658","article-title":"Epstein-Barr virus-specific immune control by innate lymphocytes","volume":"8","author":"Munz","year":"2017","journal-title":"Front Immunol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1827","DOI":"10.1084\/jem.20161017","article-title":"Two alternate strategies for innate immunity to Epstein-Barr virus: one using NK cells and the other NK cells and gammadelta T cells","volume":"214","author":"Djaoud","year":"2017","journal-title":"J Exp Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1111\/ped.12314","article-title":"Current research on chronic active Epstein-Barr virus infection in Japan","volume":"56","author":"Fujiwara","year":"2014","journal-title":"Pediatr Int"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1867","DOI":"10.3389\/fimmu.2017.01867","article-title":"Chronic active Epstein-Barr virus disease","volume":"8","author":"Kimura","year":"2017","journal-title":"Front Immunol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1395","DOI":"10.1084\/jem.187.9.1395","article-title":"Direct visualization of antigen-specific CD8+ T cells during the primary immune response to Epstein-Barr virus in vivo","volume":"187","author":"Callan","year":"1998","journal-title":"J Exp Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"e2009032","DOI":"10.4084\/MJHID.2009.032","article-title":"EBV and HIV-related lymphoma","volume":"1","author":"Bibas","year":"2009","journal-title":"Mediterr J Hematol Infect Dis"},{"key":"B10","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1097\/ACI.0000000000000008","article-title":"X-linked lymphoproliferative syndromes and related autosomal recessive disorders","volume":"13","author":"Veillette","year":"2013","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1084\/jem.20161846","article-title":"Human immunity against EBV-lessons from the clinic","volume":"214","author":"Tangye","year":"2017","journal-title":"J Exp Med"},{"key":"B12","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/978-3-319-22822-8_10","article-title":"Primary immunodeficiencies associated with EBV disease","volume":"390","author":"Cohen","year":"2015","journal-title":"Curr Top Microbiol Immunol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.molmed.2015.04.002","article-title":"Recent advances in understanding the pathophysiology of primary T cell immunodeficiencies","volume":"21","author":"Fischer","year":"2015","journal-title":"Trends Mol Med"},{"key":"B14","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/B978-0-12-800100-4.00004-0","article-title":"Combined immunodeficiencies with nonfunctional T lymphocytes","volume":"121","author":"Notarangelo","year":"2014","journal-title":"Adv Immunol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/26683","article-title":"The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM","volume":"395","author":"Sayos","year":"1998","journal-title":"Nature"},{"key":"B16","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1038\/2424","article-title":"Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene","volume":"20","author":"Coffey","year":"1998","journal-title":"Nat Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"13765","DOI":"10.1073\/pnas.95.23.13765","article-title":"Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome","volume":"95","author":"Nichols","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B18","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1007\/s10875-014-0083-7","article-title":"XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP","volume":"34","author":"Tangye","year":"2014","journal-title":"J Clin Immunol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1046\/j.1365-2141.2002.03851.x","article-title":"X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective","volume":"119","author":"Gaspar","year":"2002","journal-title":"Br J Haematol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/0002-9343(82)90923-8","article-title":"Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry","volume":"73","author":"Purtilo","year":"1982","journal-title":"Am J Med"},{"key":"B21","first-page":"3118","article-title":"Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease","volume":"96","author":"Sumegi","year":"2000","journal-title":"Blood"},{"key":"B22","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1111\/j.1399-3038.2012.01282.x","article-title":"Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis","volume":"23","author":"Kanegane","year":"2012","journal-title":"Pediatr Allergy Immunol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1182\/blood-2010-06-284935","article-title":"X-linked lymphoproliferative disease due to SAP\/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease","volume":"117","author":"Booth","year":"2011","journal-title":"Blood"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1522","DOI":"10.1182\/blood-2010-07-298372","article-title":"Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1\/SAP deficiency) versus type 2 (XLP-2\/XIAP deficiency)","volume":"117","author":"Pachlopnik Schmid","year":"2011","journal-title":"Blood"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1002\/pbc.22185","article-title":"Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection","volume":"53","author":"Talaat","year":"2009","journal-title":"Pediatr Blood Cancer"},{"key":"B26","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1007\/s10875-015-0194-9","article-title":"Cerebral vasculitis in X-linked lymphoproliferative disease cured by matched unrelated cord blood transplant","volume":"35","author":"Gray","year":"2015","journal-title":"J Clin Immunol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1203\/00006450-199510000-00001","article-title":"X-linked lymphoproliferative disease: twenty-five years after the discovery","volume":"38","author":"Seemayer","year":"1995","journal-title":"Pediatr Res"},{"key":"B28","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1182\/blood.V98.5.1321","article-title":"Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome","volume":"98","author":"Morra","year":"2001","journal-title":"Blood"},{"key":"B29","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1111\/j.1365-2249.2004.02581.x","article-title":"Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency","volume":"137","author":"Eastwood","year":"2004","journal-title":"Clin Exp Immunol"},{"key":"B30","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1046\/j.1365-2249.2001.01599.x","article-title":"X-linked lymphoproliferative disease: three atypical cases","volume":"126","author":"Nistala","year":"2001","journal-title":"Clin Exp Immunol"},{"key":"B31","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1007\/s00431-002-1083-9","article-title":"Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency","volume":"161","author":"Soresina","year":"2002","journal-title":"Eur J Pediatr"},{"key":"B32","doi-asserted-by":"publisher","first-page":"3291","DOI":"10.3892\/mmr.2015.3173","article-title":"Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X-linked lymphoproliferative disease type 1: a case report","volume":"11","author":"Liu","year":"2015","journal-title":"Mol Med Rep"},{"key":"B33","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1016\/j.bbmt.2014.06.003","article-title":"Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency\/X-linked lymphoproliferative disease type 1","volume":"20","author":"Marsh","year":"2014","journal-title":"Biol Blood Marrow Transplant"},{"key":"B34","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/nri1761","article-title":"Immune regulation by SLAM family receptors and SAP-related adaptors","volume":"6","author":"Veillette","year":"2006","journal-title":"Nat Rev Immunol"},{"key":"B35","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1111\/j.1600-065X.2009.00824.x","article-title":"Importance and mechanism of \u2019switch\u2019 function of SAP family adapters","volume":"232","author":"Veillette","year":"2009","journal-title":"Immunol Rev"},{"key":"B36","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1146\/annurev-immunol-030409-101302","article-title":"SLAM family receptors and SAP adaptors in immunity","volume":"29","author":"Cannons","year":"2011","journal-title":"Annu Rev Immunol"},{"key":"B37","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/ncb919","article-title":"Binding of SAP SH2 domain to FynT SH3 domain reveals a novel mechanism of receptor signalling in immune regulation","volume":"5","author":"Latour","year":"2003","journal-title":"Nat Cell Biol"},{"key":"B38","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1038\/90615","article-title":"Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product","volume":"2","author":"Latour","year":"2001","journal-title":"Nat Immunol"},{"key":"B39","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/ncb920","article-title":"SAP couples Fyn to SLAM immune receptors","volume":"5","author":"Chan","year":"2003","journal-title":"Nat Cell Biol"},{"key":"B40","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1002\/ijc.2910300610","article-title":"Cell-mediated immunity to Epstein-Barr virus (EBV) and natural killer (NK)-cell activity in the X-linked lymphoproliferative syndrome","volume":"30","author":"Harada","year":"1982","journal-title":"Int J Cancer"},{"key":"B41","doi-asserted-by":"crossref","first-page":"2532","DOI":"10.4049\/jimmunol.129.6.2532","article-title":"Immune deficiency in the X-linked lymphoproliferative syndrome. I. Epstein-Barr virus-specific defects","volume":"129","author":"Harada","year":"1982","journal-title":"J Immunol"},{"key":"B42","doi-asserted-by":"publisher","first-page":"2932","DOI":"10.4049\/jimmunol.165.6.2932","article-title":"Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome","volume":"165","author":"Tangye","year":"2000","journal-title":"J Immunol"},{"key":"B43","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1084\/jem.192.3.337","article-title":"X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells","volume":"192","author":"Parolini","year":"2000","journal-title":"J Exp Med"},{"key":"B44","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1084\/jem.194.3.235","article-title":"NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease","volume":"194","author":"Bottino","year":"2001","journal-title":"J Exp Med"},{"key":"B45","doi-asserted-by":"publisher","first-page":"4383","DOI":"10.1182\/blood-2004-08-3269","article-title":"SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells","volume":"105","author":"Dupre","year":"2005","journal-title":"Blood"},{"key":"B46","doi-asserted-by":"publisher","first-page":"3821","DOI":"10.1182\/blood-2003-09-3359","article-title":"SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease","volume":"103","author":"Sharifi","year":"2004","journal-title":"Blood"},{"key":"B47","doi-asserted-by":"publisher","first-page":"3249","DOI":"10.1182\/blood-2009-09-238832","article-title":"Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets","volume":"116","author":"Hislop","year":"2010","journal-title":"Blood"},{"key":"B48","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1084\/jem.20050449","article-title":"Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn","volume":"202","author":"Bloch-Queyrat","year":"2005","journal-title":"J Exp Med"},{"key":"B49","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1038\/ni.1763","article-title":"Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells","volume":"10","author":"Dong","year":"2009","journal-title":"Nat Immunol"},{"key":"B50","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1016\/j.immuni.2012.03.023","article-title":"The adaptor SAP controls NK cell activation by regulating the enzymes Vav-1 and SHIP-1 and by enhancing conjugates with target cells","volume":"36","author":"Dong","year":"2012","journal-title":"Immunity"},{"key":"B51","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1016\/j.immuni.2012.05.017","article-title":"Positive and negative signaling through SLAM receptors regulate synapse organization and thresholds of cytolysis","volume":"36","author":"Zhao","year":"2012","journal-title":"Immunity"},{"key":"B52","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/ni.3369","article-title":"A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education","volume":"17","author":"Wu","year":"2016","journal-title":"Nat Immunol"},{"key":"B53","doi-asserted-by":"publisher","first-page":"e1001187","DOI":"10.1371\/journal.pbio.1001187","article-title":"Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP","volume":"9","author":"Palendira","year":"2011","journal-title":"PLoS Biol"},{"key":"B54","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nature05257","article-title":"XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome","volume":"444","author":"Rigaud","year":"2006","journal-title":"Nature"},{"key":"B55","doi-asserted-by":"publisher","first-page":"2976","DOI":"10.1172\/JCI39518","article-title":"Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency","volume":"119","author":"Snow","year":"2009","journal-title":"J Clin Invest"},{"key":"B56","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1002\/eji.200636417","article-title":"Increased proliferation of CD8+ T cells in SAP-deficient mice is associated with impaired activation-induced cell death","volume":"37","author":"Chen","year":"2007","journal-title":"Eur J Immunol"},{"key":"B57","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s10875-015-0141-9","article-title":"X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome","volume":"35","author":"Aguilar","year":"2015","journal-title":"J Clin Immunol"},{"key":"B58","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.semcdb.2015.01.015","article-title":"XIAP deficiency syndrome in humans","volume":"39","author":"Latour","year":"2015","journal-title":"Semin Cell Dev Biol"},{"key":"B59","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.immuni.2012.01.012","article-title":"Inhibitor of apoptosis proteins limit RIP3 kinase-dependent interleukin-1 activation","volume":"36","author":"Vince","year":"2012","journal-title":"Immunity"},{"key":"B60","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1002\/emmm.201303090","article-title":"Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling","volume":"5","author":"Damgaard","year":"2013","journal-title":"EMBO Mol Med"},{"key":"B61","doi-asserted-by":"publisher","first-page":"14524","DOI":"10.1073\/pnas.0907131106","article-title":"XIAP mediates NOD signaling via interaction with RIP2","volume":"106","author":"Krieg","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B62","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.clim.2013.07.004","article-title":"X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis","volume":"149","author":"Speckmann","year":"2013","journal-title":"Clin Immunol"},{"key":"B63","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1016\/j.jaci.2014.04.031","article-title":"Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers","volume":"134","author":"Aguilar","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B64","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.ccell.2016.08.015","article-title":"Discovery of dual inhibitors of MDM2 and XIAP for cancer treatment","volume":"30","author":"Gu","year":"2016","journal-title":"Cancer Cell"},{"key":"B65","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1111\/cei.12306","article-title":"A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency","volume":"176","author":"Ammann","year":"2014","journal-title":"Clin Exp Immunol"},{"key":"B66","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1172\/JCI37901","article-title":"Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation","volume":"119","author":"Huck","year":"2009","journal-title":"J Clin Invest"},{"key":"B67","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1038\/leu.2011.371","article-title":"Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases","volume":"26","author":"Linka","year":"2012","journal-title":"Leukemia"},{"key":"B68","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1159\/000333472","article-title":"IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection","volume":"158","author":"Mansouri","year":"2012","journal-title":"Int Arch Allergy Immunol"},{"key":"B69","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1182\/blood-2014-03-564930","article-title":"Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia","volume":"124","author":"Serwas","year":"2014","journal-title":"Blood"},{"key":"B70","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1002\/pbc.25648","article-title":"ITK deficiency: how can EBV be treated before lymphoma?","volume":"62","author":"Cipe","year":"2015","journal-title":"Pediatr Blood Cancer"},{"key":"B71","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1038\/bmt.2016.185","article-title":"Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other","volume":"52","author":"Cagdas","year":"2017","journal-title":"Bone Marrow Transplant"},{"key":"B72","doi-asserted-by":"publisher","first-page":"472","DOI":"10.3324\/haematol.2010.033910","article-title":"IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach","volume":"96","author":"Stepensky","year":"2011","journal-title":"Haematologica"},{"key":"B73","doi-asserted-by":"publisher","first-page":"a002287","DOI":"10.1101\/cshperspect.a002287","article-title":"T-cell signaling regulated by the Tec family kinase, Itk","volume":"2","author":"Andreotti","year":"2010","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"B74","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1084\/jem.187.10.1721","article-title":"T cell receptor-initiated calcium release is uncoupled from capacitative calcium entry in Itk-deficient T cells","volume":"187","author":"Liu","year":"1998","journal-title":"J Exp Med"},{"key":"B75","doi-asserted-by":"publisher","first-page":"29816","DOI":"10.1074\/jbc.M312848200","article-title":"Regulation of CXC chemokine receptor 4-mediated migration by the Tec family tyrosine kinase ITK","volume":"279","author":"Fischer","year":"2004","journal-title":"J Biol Chem"},{"key":"B76","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1126\/science.284.5414.638","article-title":"Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity","volume":"284","author":"Schaeffer","year":"1999","journal-title":"Science"},{"key":"B77","doi-asserted-by":"publisher","first-page":"2699","DOI":"10.4049\/jimmunol.1601202","article-title":"Inducible T cell kinase regulates the acquisition of cytolytic capacity and degranulation in CD8(+) CTLs","volume":"198","author":"Kapnick","year":"2017","journal-title":"J Immunol"},{"key":"B78","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/nature10246","article-title":"Second messenger role for Mg2+ revealed by human T-cell immunodeficiency","volume":"475","author":"Li","year":"2011","journal-title":"Nature"},{"key":"B79","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1126\/science.1240094","article-title":"Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D","volume":"341","author":"Chaigne-Delalande","year":"2013","journal-title":"Science"},{"key":"B80","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1007\/s10875-016-0341-y","article-title":"Large deletion of MAGT1 gene in a patient with classic kaposi sarcoma, CD4 lymphopenia, and EBV infection","volume":"37","author":"Brigida","year":"2017","journal-title":"J Clin Immunol"},{"key":"B81","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1007\/s10875-014-0116-2","article-title":"Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease","volume":"35","author":"Dhalla","year":"2015","journal-title":"J Clin Immunol"},{"key":"B82","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.clim.2015.04.015","article-title":"A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease","volume":"159","author":"Patiroglu","year":"2015","journal-title":"Clin Immunol"},{"key":"B83","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1182\/blood-2013-11-538686","article-title":"XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus","volume":"123","author":"Li","year":"2014","journal-title":"Blood"},{"key":"B84","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ceb.2016.03.021","article-title":"N-linked glycosylation and homeostasis of the endoplasmic reticulum","volume":"41","author":"Cherepanova","year":"2016","journal-title":"Curr Opin Cell Biol"},{"key":"B85","doi-asserted-by":"publisher","first-page":"S109","DOI":"10.1684\/mrh.2011.0286","article-title":"Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency","volume":"24","author":"Li","year":"2011","journal-title":"Magnes Res"},{"key":"B86","doi-asserted-by":"publisher","first-page":"2529","DOI":"10.4049\/jimmunol.1701467","article-title":"Cutting edge: imbalanced cation homeostasis in MAGT1-deficient B Cells dysregulates B cell development and signaling in mice","volume":"200","author":"Gotru","year":"2018","journal-title":"J Immunol"},{"key":"B87","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1128\/JVI.01777-06","article-title":"The switch from latent to productive infection in Epstein-Barr virus-infected B cells is associated with sensitization to NK cell killing","volume":"81","author":"Pappworth","year":"2007","journal-title":"J Virol"},{"key":"B88","doi-asserted-by":"publisher","first-page":"2364","DOI":"10.1016\/j.biocel.2009.07.005","article-title":"NKG2D and its ligands","volume":"41","author":"Obeidy","year":"2009","journal-title":"Int J Biochem Cell Biol"},{"key":"B89","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1016\/j.jaci.2011.11.013","article-title":"CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia","volume":"129","author":"van Montfrans","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"B90","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/j.jaci.2015.02.022","article-title":"Novel mutations in TNFRSF7\/CD27: clinical, immunologic, and genetic characterization of human CD27 deficiency","volume":"136","author":"Alkhairy","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"B91","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1084\/jem.20160784","article-title":"Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection","volume":"214","author":"Izawa","year":"2017","journal-title":"J Exp Med"},{"key":"B92","doi-asserted-by":"publisher","first-page":"473","DOI":"10.3324\/haematol.2012.068791","article-title":"Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27","volume":"98","author":"Salzer","year":"2013","journal-title":"Haematologica"},{"key":"B93","doi-asserted-by":"publisher","first-page":"1679","DOI":"10.1084\/jem.188.9.1679","article-title":"Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells","volume":"188","author":"Klein","year":"1998","journal-title":"J Exp Med"},{"key":"B94","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.pharmthera.2015.07.007","article-title":"CD70: an emerging target in cancer immunotherapy","volume":"155","author":"Jacobs","year":"2015","journal-title":"Pharmacol Ther"},{"key":"B95","doi-asserted-by":"publisher","first-page":"1691","DOI":"10.1084\/jem.188.9.1691","article-title":"Identification of functional human splenic memory B cells by expression of CD148 and CD27","volume":"188","author":"Tangye","year":"1998","journal-title":"J Exp Med"},{"key":"B96","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/80877","article-title":"CD27 is required for generation and long-term maintenance of T cell immunity","volume":"1","author":"Hendriks","year":"2000","journal-title":"Nat Immunol"},{"key":"B97","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/j.coi.2005.04.004","article-title":"CD27 and CD70 in T cell and B cell activation","volume":"17","author":"Borst","year":"2005","journal-title":"Curr Opin Immunol"},{"key":"B98","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1084\/jem.20160849","article-title":"Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency","volume":"214","author":"Abolhassani","year":"2017","journal-title":"J Exp Med"},{"key":"B99","doi-asserted-by":"publisher","first-page":"2015","DOI":"10.3389\/fimmu.2017.02015","article-title":"CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever","volume":"8","author":"Caorsi","year":"2017","journal-title":"Front Immunol"},{"key":"B100","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/nature13386","article-title":"CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation","volume":"510","author":"Martin","year":"2014","journal-title":"Nature"},{"key":"B101","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1007\/s10875-016-0332-z","article-title":"CTP synthase 1 deficiency in successfully transplanted siblings with combined immune deficiency and chronic active EBV infection","volume":"36","author":"Kucuk","year":"2016","journal-title":"J Clin Immunol"},{"key":"B102","doi-asserted-by":"publisher","first-page":"1722","DOI":"10.1016\/j.jaci.2016.04.059","article-title":"Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of 2 siblings","volume":"138","author":"Truck","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"B103","doi-asserted-by":"publisher","first-page":"33035","DOI":"10.1074\/jbc.R400007200","article-title":"Mammalian pyrimidine biosynthesis: fresh insights into an ancient pathway","volume":"279","author":"Evans","year":"2004","journal-title":"J Biol Chem"},{"key":"B104","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1007\/s10875-014-0074-8","article-title":"Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy","volume":"34","author":"Stray-Pedersen","year":"2014","journal-title":"J Clin Immunol"},{"key":"B105","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1038\/ni.1662","article-title":"The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency","volume":"9","author":"Shiow","year":"2008","journal-title":"Nat Immunol"},{"key":"B106","doi-asserted-by":"publisher","first-page":"1594","DOI":"10.1016\/j.jaci.2013.01.042","article-title":"Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation","volume":"131","author":"Moshous","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"B107","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1007\/s10875-015-0130-z","article-title":"Coronin-1A: immune deficiency in humans and mice","volume":"35","author":"Punwani","year":"2015","journal-title":"J Clin Immunol"},{"key":"B108","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/j.jaci.2015.08.020","article-title":"Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association","volume":"137","author":"Yee","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"B109","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1007\/s11882-014-0481-1","article-title":"The expanding spectrum of human coronin 1A deficiency","volume":"14","author":"Moshous","year":"2014","journal-title":"Curr Allergy Asthma Rep"},{"key":"B110","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/nri3465","article-title":"On guard: coronin proteins in innate and adaptive immunity","volume":"13","author":"Pieters","year":"2013","journal-title":"Nat Rev Immunol"},{"key":"B111","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1126\/science.1130563","article-title":"Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis","volume":"313","author":"Foger","year":"2006","journal-title":"Science"},{"key":"B112","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1038\/ni1570","article-title":"Regulation of T cell survival through coronin-1-mediated generation of inositol-1,4,5-trisphosphate and calcium mobilization after T cell receptor triggering","volume":"9","author":"Mueller","year":"2008","journal-title":"Nat Immunol"},{"key":"B113","doi-asserted-by":"publisher","first-page":"6708","DOI":"10.1073\/pnas.1314975111","article-title":"Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A","volume":"111","author":"Mace","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B114","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.jaut.2011.05.018","article-title":"Coronin 1A is an essential regulator of the TGFbeta receptor\/SMAD3 signaling pathway in Th17 CD4(+) T cells","volume":"37","author":"Kaminski","year":"2011","journal-title":"J Autoimmun"},{"key":"B115","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s12964-015-0100-3","article-title":"Novel protein kinase C theta: coronin 1A complex in T lymphocytes","volume":"13","author":"Siegmund","year":"2015","journal-title":"Cell Commun Signal"},{"key":"B116","doi-asserted-by":"publisher","first-page":"e1001820","DOI":"10.1371\/journal.pbio.1001820","article-title":"Coronin 1 regulates cognition and behavior through modulation of cAMP\/protein kinase A signaling","volume":"12","author":"Jayachandran","year":"2014","journal-title":"PLoS Biol"},{"key":"B117","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1182\/blood-2016-11-749622","article-title":"Coronin 1A, a novel player in integrin biology, controls neutrophil trafficking in innate immunity","volume":"130","author":"Pick","year":"2017","journal-title":"Blood"},{"key":"B118","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1016\/j.jaci.2012.07.049","article-title":"Warts and all: human papillomavirus in primary immunodeficiencies","volume":"130","author":"Leiding","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"B119","doi-asserted-by":"publisher","first-page":"188","DOI":"10.15252\/emmm.201708292","article-title":"Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility","volume":"10","author":"Winter","year":"2018","journal-title":"EMBO Mol Med"},{"key":"B120","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1038\/ni.3575","article-title":"RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics","volume":"17","author":"Salzer","year":"2016","journal-title":"Nat Immunol"},{"key":"B121","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.clim.2017.08.007","article-title":"Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1","volume":"183","author":"Platt","year":"2017","journal-title":"Clin Immunol"},{"key":"B122","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/j.it.2013.02.004","article-title":"Ras and extracellular signal-regulated kinase signaling in thymocytes and T cells","volume":"34","author":"Kortum","year":"2013","journal-title":"Trends Immunol"},{"key":"B123","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/S1471-4906(00)01845-7","article-title":"RasGRP: the missing link for Ras activation in thymocytes","volume":"22","author":"Hogquist","year":"2001","journal-title":"Trends Immunol"},{"key":"B124","doi-asserted-by":"publisher","first-page":"4426","DOI":"10.1128\/MCB.25.11.4426-4441.2005","article-title":"A diacylglycerol-protein kinase C-RasGRP1 pathway directs Ras activation upon antigen receptor stimulation of T cells","volume":"25","author":"Roose","year":"2005","journal-title":"Mol Cell Biol"},{"key":"B125","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/embor.2012.17","article-title":"TCR-mediated Erk activation does not depend on Sos and Grb2 in peripheral human T cells","volume":"13","author":"Warnecke","year":"2012","journal-title":"EMBO Rep"},{"key":"B126","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.10.026","article-title":"RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease","author":"Mao","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B127","doi-asserted-by":"publisher","first-page":"3605","DOI":"10.4049\/jimmunol.1202892","article-title":"Multiple checkpoint breach of B cell tolerance in Rasgrp1-deficient mice","volume":"191","author":"Bartlett","year":"2013","journal-title":"J Immunol"},{"key":"B128","doi-asserted-by":"publisher","first-page":"e01020","DOI":"10.7554\/eLife.01020","article-title":"Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios(+) T cells and autoantibodies","volume":"2","author":"Daley","year":"2013","journal-title":"Elife"},{"key":"B129","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1038\/ng.3496","article-title":"High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry","volume":"48","author":"Sun","year":"2016","journal-title":"Nat Genet"},{"key":"B130","doi-asserted-by":"publisher","first-page":"35781","DOI":"10.1038\/srep35781","article-title":"Novel identified associations of RGS1 and RASGRP1 variants in IgA nephropathy","volume":"6","author":"Zhou","year":"2016","journal-title":"Sci Rep"},{"key":"B131","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1136\/jmg.2009.067140","article-title":"Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies","volume":"46","author":"Qu","year":"2009","journal-title":"J Med Genet"},{"key":"B132","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1084\/jem.20042432","article-title":"Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product","volume":"201","author":"Pasquier","year":"2005","journal-title":"J Exp Med"},{"key":"B133","doi-asserted-by":"publisher","first-page":"2397","DOI":"10.4049\/jimmunol.169.5.2397","article-title":"NK T cell precursors exhibit differential cytokine regulation and require Itk for efficient maturation","volume":"169","author":"Gadue","year":"2002","journal-title":"J Immunol"},{"key":"B134","doi-asserted-by":"publisher","first-page":"3007","DOI":"10.4049\/jimmunol.180.5.3007","article-title":"The Tec kinases Itk and Rlk regulate NKT cell maturation, cytokine production, and survival","volume":"180","author":"Felices","year":"2008","journal-title":"J Immunol"},{"key":"B135","doi-asserted-by":"publisher","first-page":"4467","DOI":"10.4049\/jimmunol.1003798","article-title":"Critical roles of RasGRP1 for invariant NKT cell development","volume":"187","author":"Shen","year":"2011","journal-title":"J Immunol"},{"key":"B136","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1038\/nm1189","article-title":"Regulation of NKT cell development by SAP, the protein defective in XLP","volume":"11","author":"Nichols","year":"2005","journal-title":"Nat Med"},{"key":"B137","doi-asserted-by":"publisher","first-page":"3386","DOI":"10.1182\/blood-2012-11-468868","article-title":"The adaptor molecule SAP plays essential roles during invariant NKT cell cytotoxicity and lytic synapse formation","volume":"121","author":"Das","year":"2013","journal-title":"Blood"},{"key":"B138","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1182\/blood-2012-09-456095","article-title":"Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP","volume":"121","author":"Gerart","year":"2013","journal-title":"Blood"},{"key":"B139","doi-asserted-by":"publisher","first-page":"2600","DOI":"10.1182\/blood-2013-01-480665","article-title":"Innate immune control of EBV-infected B cells by invariant natural killer T cells","volume":"122","author":"Chung","year":"2013","journal-title":"Blood"},{"key":"B140","doi-asserted-by":"publisher","first-page":"7935","DOI":"10.1158\/0008-5472.CAN-09-0828","article-title":"EBV-induced human CD8+ NKT cells suppress tumorigenesis by EBV-associated malignancies","volume":"69","author":"Yuling","year":"2009","journal-title":"Cancer Res"},{"key":"B141","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/cmi.2009.48","article-title":"EBV-induced human CD8(+) NKT cells synergise CD4(+) NKT cells suppressing EBV-associated tumours upon induction of Th1-bias","volume":"6","author":"Xiao","year":"2009","journal-title":"Cell Mol Immunol"},{"key":"B142","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1126\/science.aaa4282","article-title":"IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations","volume":"349","author":"Okada","year":"2015","journal-title":"Science"},{"key":"B143","doi-asserted-by":"publisher","first-page":"2533","DOI":"10.1182\/blood-2014-01-553024","article-title":"Role for early-differentiated natural killer cells in infectious mononucleosis","volume":"124","author":"Azzi","year":"2014","journal-title":"Blood"},{"key":"B144","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1038\/ni.3553","article-title":"Evidence of innate lymphoid cell redundancy in humans","volume":"17","author":"Vely","year":"2016","journal-title":"Nat Immunol"},{"key":"B145","doi-asserted-by":"publisher","first-page":"7274","DOI":"10.4049\/jimmunol.1001547","article-title":"Endoplasmic reticulum stress-mediated apoptosis of EBV-transformed B cells by cross-linking of CD70 is dependent upon generation of reactive oxygen species and activation of p38 MAPK and JNK pathway","volume":"185","author":"Park","year":"2010","journal-title":"J Immunol"},{"key":"B146","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.coi.2017.08.004","article-title":"Hemophagocytic syndrome: primary forms and predisposing conditions","volume":"49","author":"Sepulveda","year":"2017","journal-title":"Curr Opin Immunol"},{"key":"B147","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1007\/s10875-016-0306-1","article-title":"NF-kappaB1 haploinsufficiency causing Immunodeficiency and EBV-driven lymphoproliferation","volume":"36","author":"Boztug","year":"2016","journal-title":"J Clin Immunol"},{"key":"B148","doi-asserted-by":"publisher","first-page":"3458","DOI":"10.1182\/blood-2011-09-378364","article-title":"MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival","volume":"119","author":"Nehme","year":"2012","journal-title":"Blood"},{"key":"B149","doi-asserted-by":"publisher","first-page":"3450","DOI":"10.1182\/blood-2011-09-378158","article-title":"The phenotype of human STK4 deficiency","volume":"119","author":"Abdollahpour","year":"2012","journal-title":"Blood"},{"key":"B150","doi-asserted-by":"publisher","first-page":"64","DOI":"10.2350\/10-01-0787-CR.1","article-title":"Hodgkin\u2019s and non-Hodgkin\u2019s lymphomas occurring in two brothers with Wiskott-Aldrich syndrome and review of the literature","volume":"14","author":"Du","year":"2011","journal-title":"Pediatr Dev Pathol"},{"key":"B151","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10875-014-0126-0","article-title":"DOCK8 deficiency: clinical and immunological phenotype and treatment options \u2013 a review of 136 patients","volume":"35","author":"Aydin","year":"2015","journal-title":"J Clin Immunol"},{"key":"B152","doi-asserted-by":"publisher","first-page":"1869","DOI":"10.3389\/fimmu.2017.01869","article-title":"GATA2 deficiency and Epstein-Barr virus disease","volume":"8","author":"Cohen","year":"2017","journal-title":"Front Immunol"},{"key":"B153","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.jaci.2016.06.021","article-title":"Clinical spectrum and features of activated phosphoinositide 3-kinase \u03b4 syndrome: a large patient cohort study","volume":"139","author":"Coulter","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"B154","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.jaci.2010.09.016","article-title":"Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency","volume":"127","author":"Newell","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"B155","doi-asserted-by":"publisher","first-page":"2030","DOI":"10.1056\/NEJMoa073966","article-title":"An immunodeficiency disease with RAG mutations and granulomas","volume":"358","author":"Schuetz","year":"2008","journal-title":"N Engl J Med"},{"key":"B156","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.jaci.2015.03.005","article-title":"Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency","volume":"136","author":"Felgentreff","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"B157","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1182\/blood-2012-06-432500","article-title":"Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes","volume":"121","author":"Marsh","year":"2013","journal-title":"Blood"},{"key":"B158","doi-asserted-by":"publisher","first-page":"4966","DOI":"10.1182\/blood-2013-01-478735","article-title":"Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis","volume":"121","author":"Worth","year":"2013","journal-title":"Blood"},{"key":"B159","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/s10875-016-0348-4","article-title":"Hematopoietic stem cell transplantation for XIAP deficiency in Japan","volume":"37","author":"Ono","year":"2017","journal-title":"J Clin Immunol"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.01103\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T19:45:38Z","timestamp":1693683938000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.01103\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,4]]},"references-count":159,"alternative-id":["10.3389\/fimmu.2018.01103"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2018.01103","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,4]]},"article-number":"1103"}}