{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:40:22Z","timestamp":1761986422937},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2000,7,1]],"date-time":"2000-07-01T00:00:00Z","timestamp":962409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,12,24]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) are associated with chromosome 22q11.2 deletion. Limited information is available on the T cell receptor (TCR) V\u03b2 repertoire. We therefore investigated TCR V\u03b2 families in lymphocytes isolated from blood and thymic samples of seven patients with DGS and seven patients with VCFS, all with 22q11.2 deletion. We also studied activities related to TCR signalling including in\u2003vitro proliferation, anti-CD3-induced protein tyrosine phosphorylation, and susceptibility to apoptosis. Reduced CD3+ T cells were observed in most patients. Spontaneous improvement of T cell numbers was detected in patients, 3\u2003years after the first study. Analysis of CD4+ and CD8+ TCR V\u03b2 repertoire in peripheral and thymic cells showed a normal distribution of populations even if occasional deletions were observed. Lymphoproliferative responses to mitogens were comparable to controls as well as anti-CD3-induced protein tyrosine phosphorylation. Increased anti-CD3-mediated apoptosis was observed in thymic cells. Our data support the idea that in patients surviving the correction of cardiac anomalies, the immune defect appears milder than originally thought, suggesting development of a normal repertoire of mature T cells.<\/jats:p>","DOI":"10.1046\/j.1365-2249.2000.01247.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T10:22:25Z","timestamp":1047378145000},"page":"127-132","source":"Crossref","is-referenced-by-count":28,"title":["T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome"],"prefix":"10.1093","volume":"121","author":[{"given":"M","family":"Pierdominici","sequence":"first","affiliation":[{"name":"Chair of Clinical Immunology and Allergy, Department of Clinical Medicine, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Marziali","sequence":"additional","affiliation":[{"name":"Chair of Clinical Immunology and Allergy, Department of Clinical Medicine, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Giovannetti","sequence":"additional","affiliation":[{"name":"Chair of Clinical Immunology and Allergy, Department of Clinical Medicine, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Oliva","sequence":"additional","affiliation":[{"name":"Chair of Clinical Immunology and Allergy, Department of Clinical Medicine, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Rosso","sequence":"additional","affiliation":[{"name":"Chair of Clinical Immunology and Allergy, Department of Clinical Medicine, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Marino","sequence":"additional","affiliation":[{"name":"Hospital Bambino Gesu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Digilio","sequence":"additional","affiliation":[{"name":"Hospital Bambino Gesu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Giannotti","sequence":"additional","affiliation":[{"name":"Hospital Bambino Gesu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Novelli","sequence":"additional","affiliation":[{"name":"Human and Medical Genetics, Department of Public Health and Cellular Biology, Tor Vergata University and CSS-Mendel Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Human and Medical Genetics, Department of Public Health and Cellular Biology, Tor Vergata University and CSS-Mendel Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Aiuti","sequence":"additional","affiliation":[{"name":"Chair of Clinical 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