{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T18:48:47Z","timestamp":1770144527735,"version":"3.49.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2003,4,16]],"date-time":"2003-04-16T00:00:00Z","timestamp":1050451200000},"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":[[2003,4,16]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>Chromosome 22q11.2 deletion (del22q11.2) syndrome (DiGeorge syndrome\/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency. Although a broad range of immunologic defects have been described in these patients, limited information is currently available on the diversity of the T-cell receptor (TCR) variable \u03b2 (BV) chain repertoire. The TCRBV repertoires of nine patients with del22q11.2 syndrome were determined by flow cytometry, fragment size analysis of the third complementarity determining region (CDR3 spectratyping) and sequencing of V(D)J regions. The rate of thymic output and the phenotype and function of peripheral T\u2003cells were also studied. Expanded TCRBV families were detected by flow cytometry in both CD4+ and CD8+ T cells. A decreased diversity of TCR repertoires was also demonstrated by CDR3 spectratyping, showing altered CDR3 profiles in the majority of TCRBV families investigated. The oligoclonal nature of abnormal peaks detected by CDR3 spectratyping was confirmed by the sequence analysis of the V(D)J regions. Thymic output, evaluated by measuring TCR rearrangement excision circles (TRECs), was significantly decreased in comparison with age-matched controls. Finally, a significant up-regulation in the percentage, but not in the absolute count, of activated CD4+ T\u2003cells (CD95+, CCR5+, HLA-DR+), IFN-\u03b3 - and IL-2-expressing T\u2003cells was detected. These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and\/or increased T-cell activation.<\/jats:p>","DOI":"10.1046\/j.1365-2249.2003.02134.x","type":"journal-article","created":{"date-parts":[[2004,12,21]],"date-time":"2004-12-21T21:52:06Z","timestamp":1103665926000},"page":"323-331","source":"Crossref","is-referenced-by-count":54,"title":["Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)"],"prefix":"10.1093","volume":"132","author":[{"given":"M","family":"PIERDOMINICI","sequence":"first","affiliation":[{"name":"Laboratory of Cell Biology, Istituto Superiore di Sanit\u00e0, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"MAZZETTA","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"CAPRINI","sequence":"additional","affiliation":[{"name":"Molecular Oncogenesis Laboratory, IDI, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"MARZIALI","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"DIGILIO","sequence":"additional","affiliation":[{"name":"Hospital Bambino Ges\u00f9, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"MARINO","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"AIUTI","sequence":"additional","affiliation":[{"name":"S. Raffaele Telethon Institute for Gene Therapy, Milan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"AMATI","sequence":"additional","affiliation":[{"name":"Human and Medical Genetics, Tor Vergata University, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"RUSSO","sequence":"additional","affiliation":[{"name":"Molecular Oncogenesis Laboratory, IDI, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"NOVELLI","sequence":"additional","affiliation":[{"name":"Human and Medical Genetics, Tor Vergata University, Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"PANDOLFI","sequence":"additional","affiliation":[{"name":"Institute of Internal Medicine, Catholic University, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"LUZI","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"GIOVANNETTI","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy, University of Rome \u2018La Sapienza\u2019"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2003,4,16]]},"reference":[{"key":"2022011222101765600_b1","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1136\/jmg.35.9.789-a","article-title":"The annual incidence of DiGeorge\/velocardiofacial syndrome","volume":"35","author":"Devriendt","year":"1998","journal-title":"J Med Genet"},{"key":"2022011222101765600_b2","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum Mol Genet"},{"key":"2022011222101765600_b3","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","article-title":"Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study","volume":"34","author":"Ryan","year":"1997","journal-title":"J Med Genet"},{"key":"2022011222101765600_b4","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<319::AID-AJMG3>3.0.CO;2-G","article-title":"Phenotypic discordance in monozygotic twins with 22q11.2 deletion","volume":"78","author":"Yamagishi","year":"1998","journal-title":"Am J Med Genet"},{"key":"2022011222101765600_b5","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S1357-4310(99)01577-4","article-title":"Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome","volume":"6","author":"Novelli","year":"2000","journal-title":"Mol Med Today"},{"key":"2022011222101765600_b6","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","article-title":"The spectrum of the DiGeorge syndrome","volume":"94","author":"Conley","year":"1979","journal-title":"J Pediatr"},{"key":"2022011222101765600_b7","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S0022-3476(05)81740-8","article-title":"Variable phenotypes in velocardiofacial syndrome with chromosomal deletion","volume":"123","author":"Motzkin","year":"1993","journal-title":"J Pediatr"},{"key":"2022011222101765600_b8","first-page":"198","volume-title":"Primary immunodeficiency diseases \u2013 a molecular and genetic approach","author":"Driscoll","year":"1999"},{"key":"2022011222101765600_b9","first-page":"1","article-title":"Clinical and immunologic spectrum of the DiGeorge syndrome","volume":"6","author":"Barrett","year":"1981","journal-title":"J Clin Laboratory Immunol"},{"key":"2022011222101765600_b10","first-page":"96","article-title":"The DiGeorge sequence. 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