{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:01:24Z","timestamp":1781654484340,"version":"3.54.5"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. We report a patient carrying a <jats:italic toggle=\"yes\">SH2D1A<\/jats:italic> mutation that, after treatment for lymphoma developed fatal central nervous system vasculitis. He lacked signs of ongoing Epstein\u2013Barr virus infection. We propose that impaired T cell homeostasis caused by SAP deficiency facilitates aberrant CD8<jats:sup>+<\/jats:sup> T cell activation against vascular antigens promoting clinical manifestations.<\/jats:p>","DOI":"10.1097\/inf.0000000000002154","type":"journal-article","created":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T00:31:42Z","timestamp":1534984302000},"page":"e29-e31","source":"Crossref","is-referenced-by-count":6,"title":["Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation"],"prefix":"10.1097","volume":"38","author":[{"given":"Jo\u00e3o Farela","family":"Neves","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"},{"name":"Department of Pediatrics, CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamberto Torralba","family":"Raga","sequence":"additional","affiliation":[{"name":"Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel C. C.","family":"Chiang","sequence":"additional","affiliation":[{"name":"Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Tesi","sequence":"additional","affiliation":[{"name":"The Childhood Cancer Research Unit, Department of Women\u2019s and Children\u2019s Health, Karolinska Institute, Karolinska University Hospital Solna"},{"name":"The Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Pedro","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurology Service, Hospital Dona Estef\u00e2nia- CHLC, EPE, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel","family":"Cordeiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia- CHLC, EPE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Borrego","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal"},{"name":"Hospital CUF Descobertas, Immunoallergy Department, Lisbon, Portugal."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yenan T.","family":"Bryceson","sequence":"additional","affiliation":[{"name":"Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230912","doi-asserted-by":"crossref","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":"R2-20230912","doi-asserted-by":"crossref","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":"R4-20230912","doi-asserted-by":"crossref","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 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