{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:27:34Z","timestamp":1787030854298,"version":"build-2736575974"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The biological role in vivo of the homologous CD3\u03b3 and \u03b4 invariant chains within the human TCR\/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, in a Turkish family, two new patients with complete CD3\u03b3 deficiency and SCID symptoms and compared them with three CD3\u03b3-deficient individuals belonging to two families from Turkey and Spain. All tested patients shared similar immunological features such as a partial TCR\/CD3 expression defect, mild \u03b1\u03b2 and \u03b3\u03b4 T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA+ \u03b1\u03b2 T cells. However, intrafamilial and interfamilial clinical variability was observed in patients carrying the same CD3G mutations. Two reached the second or third decade in healthy conditions, whereas the other three showed lethal SCID features with enteropathy early in life. In contrast, all reported human complete CD3\u03b4 (or CD3\u03b5) deficiencies are in infants with life-threatening SCID and very severe \u03b1\u03b2 and \u03b3\u03b4 T lymphocytopenia. Thus, the peripheral T lymphocyte pool was comparatively well preserved in human CD3\u03b3 deficiencies despite poor thymus output or clinical outcome. We propose a CD3\u03b4 \u226b CD3\u03b3 hierarchy for the relative impact of their absence on the signaling for T cell production in humans.<\/jats:p>","DOI":"10.4049\/jimmunol.178.4.2556","type":"journal-article","created":{"date-parts":[[2014,4,18]],"date-time":"2014-04-18T19:02:49Z","timestamp":1397847769000},"page":"2556-2564","source":"Crossref","is-referenced-by-count":65,"title":["Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies"],"prefix":"10.1093","volume":"178","author":[{"given":"Mari\u0301a J","family":"Recio","sequence":"first","affiliation":[{"name":"Inmunologi\u0301a, Facultad de Medicina, Universidad Complutense , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel Angel","family":"Moreno-Pelayo","sequence":"additional","affiliation":[{"name":"Unidad de Gene\u0301tica Molecular, Hospital Ramo\u0301n y Cajal , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara S","family":"Kilic\u0327","sequence":"additional","affiliation":[{"name":"Pediatric Immunology, Uludag University Medical Faculty , Go\u0308ru\u0308kle-Bursa ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto C","family":"Guardo","sequence":"additional","affiliation":[{"name":"Inmunologi\u0301a, Facultad de Medicina, Universidad Complutense , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Sanal","sequence":"additional","affiliation":[{"name":"Immunology Division, Hacettepe University Children\u2019s Hospital , Ankara ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis M","family":"Allende","sequence":"additional","affiliation":[{"name":"Inmunologi\u0301a, Hospital 12 de Octubre , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vero\u0301nica","family":"Pe\u0301rez-Flores","sequence":"additional","affiliation":[{"name":"Inmunologi\u0301a, Facultad de Medicina, Universidad Complutense , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeles","family":"Menci\u0301a","sequence":"additional","affiliation":[{"name":"Unidad de Gene\u0301tica Molecular, Hospital Ramo\u0301n y Cajal , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Modamio-H\u00f8ybj\u00f8r","sequence":"additional","affiliation":[{"name":"Unidad de Gene\u0301tica Molecular, Hospital Ramo\u0301n y Cajal , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Seoane","sequence":"additional","affiliation":[{"name":"Inmunobiologi\u0301a Molecular, Hospital Gregorio Maran\u0303o\u0301n , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose\u0301 R","family":"Regueiro","sequence":"additional","affiliation":[{"name":"Inmunologi\u0301a, Facultad de Medicina, Universidad Complutense , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,2,15]]},"reference":[{"key":"2026012811124630900_R1","first-page":"263","volume-title":"Cell","year":"1994"},{"key":"2026012811124630900_R2","first-page":"101","volume-title":"Annu. Rev. Immunol.","year":"2005"},{"key":"2026012811124630900_R3","first-page":"2348","volume-title":"EMBO J.","year":"2004"},{"key":"2026012811124630900_R4","first-page":"38","volume-title":"Immunol. Rev.","year":"2003"},{"key":"2026012811124630900_R5","first-page":"431","volume-title":"Immunol. Today","year":"1999"},{"key":"2026012811124630900_R6","first-page":"2576","volume-title":"J. Immunol.","year":"2001"},{"key":"2026012811124630900_R7","first-page":"491","volume-title":"Curr. Opin. Allergy Clin. Immunol.","year":"2005"},{"key":"2026012811124630900_R8","first-page":"1274","volume-title":"Lancet","year":"1986"},{"key":"2026012811124630900_R9","first-page":"1871","volume-title":"EMBO J.","year":"1998"},{"key":"2026012811124630900_R10","first-page":"3152","volume-title":"J. Immunol.","year":"1998"},{"key":"2026012811124630900_R11","first-page":"35119","volume-title":"J. Biol. Chem.","year":"1999"},{"key":"2026012811124630900_R12","first-page":"24485","volume-title":"J. Biol. Chem.","year":"2004"},{"key":"2026012811124630900_R13","first-page":"216","volume-title":"Primary Immunodeficiency Diseases, a Molecular and Genetic Approach","year":"2007"},{"key":"2026012811124630900_R14","first-page":"1959","volume-title":"AIDS","year":"2001"},{"key":"2026012811124630900_R15","first-page":"690","volume-title":"Nature","year":"1998"},{"key":"2026012811124630900_R16","first-page":"41","volume-title":"The Immunologist (Suppl.","year":"1997"},{"key":"2026012811124630900_R17","first-page":"529","volume-title":"N. Engl. J. Med.","year":"1992"},{"key":"2026012811124630900_R18","first-page":"1536","volume-title":"Proc. Natl. Acad. Sci. USA","year":"1999"},{"key":"2026012811124630900_R19","first-page":"2585","volume-title":"Blood","year":"1993"},{"key":"2026012811124630900_R20","first-page":"239","volume-title":"Semin. Immunol.","year":"2005"},{"key":"2026012811124630900_R21","first-page":"1409","volume-title":"J. Clin. Invest.","year":"2004"},{"key":"2026012811124630900_R22","first-page":"2146","volume-title":"J. Clin. Invest.","year":"1998"},{"key":"2026012811124630900_R23","first-page":"197","volume-title":"J. Exp. Med.","year":"2005"},{"key":"2026012811124630900_R24","first-page":"77","volume-title":"Nat. Genet.","year":"1993"},{"key":"2026012811124630900_R25","first-page":"606","volume-title":"Nature","year":"1985"},{"key":"2026012811124630900_R26","first-page":"10619","volume-title":"Proc. Natl. Acad. Sci. USA","year":"1991"},{"key":"2026012811124630900_R27","first-page":"967","volume-title":"Cell","year":"2002"},{"key":"2026012811124630900_R28","first-page":"1799","volume-title":"EMBO J.","year":"1986"},{"key":"2026012811124630900_R29","first-page":"879","volume-title":"J. Immunol.","year":"2000"},{"key":"2026012811124630900_R30","first-page":"103","volume-title":"Adv. Immunol.","year":"1999"},{"key":"2026012811124630900_R31","first-page":"589","volume-title":"Nat. Biotechnol.","year":"2004"},{"key":"2026012811124630900_R32","first-page":"1360","volume-title":"EMBO J.","year":"1997"},{"key":"2026012811124630900_R33","first-page":"47","volume-title":"J. Exp. Med.","year":"2006"},{"key":"2026012811124630900_R34","first-page":"880","volume-title":"Nat. Rev. Immunol.","year":"2005"},{"key":"2026012811124630900_R35","first-page":"1375","volume-title":"J. Exp. Med.","year":"1998"},{"key":"2026012811124630900_R36","first-page":"3420","volume-title":"Blood","year":"2006"},{"key":"2026012811124630900_R37","first-page":"1741","volume-title":"Mol. Immunol.","year":"2006"},{"key":"2026012811124630900_R38","first-page":"388","volume-title":"J. Pediatr.","year":"1997"},{"key":"2026012811124630900_R39","first-page":"125","volume-title":"Turk. J. Pediatr.","year":"2004"},{"key":"2026012811124630900_R40","first-page":"2411","volume-title":"Eur. J. Immunol.","year":"1990"},{"key":"2026012811124630900_R41","first-page":"1440","volume-title":"Eur. J. Immunol.","year":"1993"},{"key":"2026012811124630900_R42","first-page":"81","volume-title":"Turk. J. Pediatr.","year":"1996"},{"key":"2026012811124630900_R43","first-page":"4007","volume-title":"Blood","year":"2000"},{"key":"2026012811124630900_R44","first-page":"1821","volume-title":"N. Eng. J. Med.","year":"2003"},{"key":"2026012811124630900_R45","first-page":"1512","volume-title":"J. Clin. Invest.","year":"2004"},{"key":"2026012811124630900_R46","first-page":"785","volume-title":"Eur. J. Pediatr.","year":"2005"},{"key":"2026012811124630900_R47","first-page":"167","volume-title":"J. Immunol. Methods","year":"2002"},{"key":"2026012811124630900_R48","first-page":"336","volume-title":"Cytometry","year":"2000"},{"key":"2026012811124630900_R49","first-page":"165","volume-title":"Blood","year":"2001"},{"key":"2026012811124630900_R50","first-page":"16867","volume-title":"Proc. Natl. Acad. Sci. USA","year":"2004"},{"key":"2026012811124630900_R51","first-page":"16268","volume-title":"Proc. Natl. Acad. Sci. USA","year":"2004"},{"key":"2026012811124630900_R52","first-page":"152","volume-title":"Nature","year":"1996"}],"container-title":["The Journal of Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jimmunol\/article-pdf\/178\/4\/2556\/62657554\/zim00407002556.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jimmunol\/article-pdf\/178\/4\/2556\/62657554\/zim00407002556.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T16:12:54Z","timestamp":1769616774000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jimmunol\/article\/178\/4\/2556\/8059409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":52,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2007,2,15]]},"published-print":{"date-parts":[[2007,2,15]]}},"URL":"https:\/\/doi.org\/10.4049\/jimmunol.178.4.2556","relation":{},"ISSN":["0022-1767","1550-6606"],"issn-type":[{"value":"0022-1767","type":"print"},{"value":"1550-6606","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2007,2]]},"published":{"date-parts":[[2007,2]]}}}