{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T08:15:22Z","timestamp":1777623322998,"version":"3.51.4"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,18]],"date-time":"2013-01-18T00:00:00Z","timestamp":1358467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>Mutations in the transmembrane activator and calcium\u2010modulating cyclophilin ligand interactor (<jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content>) were previously found to be associated with hypogammaglobulinemia in humans. It has been shown that proliferation inducing ligand (<jats:styled-content style=\"fixed-case\">APRIL<\/jats:styled-content>) elicits class switch recombination (<jats:styled-content style=\"fixed-case\">CSR<\/jats:styled-content>) by inducing recruitment of <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>y<jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>88 to a <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> highly conserved cytoplasmic domain (<jats:styled-content style=\"fixed-case\">THC<\/jats:styled-content>). We have identified a patient with hypogammaglobulinemia carrying a missense mutation (<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>231<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>) predicted to affect the <jats:styled-content style=\"fixed-case\">THC<\/jats:styled-content>. Aiming to evaluate the relevance of this novel mutation of <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">CSR<\/jats:styled-content> induction, we tested the ability of <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">TLR<\/jats:styled-content>9, or\/and <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>40 ligands to trigger <jats:styled-content style=\"fixed-case\">CSR<\/jats:styled-content> in naive <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content> cells and <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>\u2010cell lines carrying <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>231<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>g<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content> secretion was impaired when triggered by <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> or\/and <jats:styled-content style=\"fixed-case\">TLR<\/jats:styled-content>9 ligands on <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>231<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>\u2010naive <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content> cells. Likewise, these stimuli induced less expression of activation\u2010induced cytidine deaminase, <jats:italic><jats:styled-content style=\"fixed-case\">I<\/jats:styled-content><\/jats:italic>(<jats:italic>\u03b3<\/jats:italic>)<jats:italic>1\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content><\/jats:italic>(<jats:italic>\u03bc<\/jats:italic>), and <jats:italic><jats:styled-content style=\"fixed-case\">I<\/jats:styled-content><\/jats:italic>(<jats:italic>\u03b3<\/jats:italic>)<jats:italic>1\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content><\/jats:italic>(<jats:italic>\u03bc<\/jats:italic>), while induction by optimal <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>40 stimulation was indistinguishable from controls. These cells also showed an impaired cooperation between <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">TLR<\/jats:styled-content>9 pathways, as well as a lack of <jats:styled-content style=\"fixed-case\">APRIL<\/jats:styled-content>\u2010mediated enhancement of <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>40 activation in suboptimal conditions. Finally, after <jats:styled-content style=\"fixed-case\">APRIL<\/jats:styled-content> ligation, <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>231<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>\u2010mutated <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> failed to colocalize with <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>y<jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>88. Collectively, these results highlight the requirement of an intact <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>y<jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>88\u2010binding site in <jats:styled-content style=\"fixed-case\">TACI<\/jats:styled-content> to trigger <jats:styled-content style=\"fixed-case\">CSR<\/jats:styled-content>.<\/jats:p>","DOI":"10.1002\/eji.201242945","type":"journal-article","created":{"date-parts":[[2012,12,10]],"date-time":"2012-12-10T10:34:46Z","timestamp":1355135686000},"page":"805-814","source":"Crossref","is-referenced-by-count":13,"title":["Naturally occurring mutation affecting the <scp>M<\/scp>y<scp>D<\/scp>88\u2010binding site of <i><scp>TNFRSF<\/scp>13<scp>B<\/scp><\/i> impairs triggering of class switch recombination"],"prefix":"10.1002","volume":"43","author":[{"given":"Maria B.","family":"Almejun","sequence":"first","affiliation":[{"name":"Servicio de Inmunolog\u00eda y Reumatolog\u00eda Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. 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Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Cerutti","sequence":"additional","affiliation":[{"name":"Department of Medicine Mount Sinai School of Medicine  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Oppezzo","sequence":"additional","affiliation":[{"name":"Unidad de Prote\u00ednas Recombinantes Instituto Pasteur  Montevideo Uruguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Cunningham\u2010Rundles","sequence":"additional","affiliation":[{"name":"Department of Medicine Mount Sinai School of Medicine  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Danielian","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda y Reumatolog\u00eda Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. 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