{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:14:28Z","timestamp":1787026468338,"version":"build-2736575974"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T00:00:00Z","timestamp":1576713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2019.02833","type":"journal-article","created":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T23:30:48Z","timestamp":1576711848000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":19,"title":["A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity\u2014Analysis of all Genotypes and Phenotypes"],"prefix":"10.3389","volume":"10","author":[{"given":"Wen-I","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Lang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Hao","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih-Hsiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Ling","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syh-Jae","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weng-Sheng","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tang-Her","family":"Jaing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Chen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuo-Wei","family":"Yeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsung-Chieh","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Long","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,12,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1146\/annurev.immunol.23.021704.115625","article-title":"The T cell receptor: critical role of the membrane environment in receptor assembly and function","volume":"23","author":"Call","year":"2005","journal-title":"Annu Rev Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1034\/j.1600-065X.2003.00017.x","article-title":"Initiation of TCR signaling: regulation within CD3 dimers","volume":"191","author":"Alarc\u00f3n","year":"2003","journal-title":"Immunol Rev"},{"key":"B3","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee report on inborn errors of immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1056\/NEJMoa031178","article-title":"Effect of CD3delta deficiency on maturation of alpha\/beta and gamma\/delta T-cell lineages in severe combined immunodeficiency","volume":"349","author":"Dadi","year":"2003","journal-title":"N Engl J Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1172\/JCI22588","article-title":"Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3","volume":"114","author":"de Saint Basile","year":"2004","journal-title":"J Clin Invest"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1913","DOI":"10.1056\/NEJMoa053750","article-title":"Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency","volume":"354","author":"Rieux-Laucat","year":"2006","journal-title":"N Engl J Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"2576","DOI":"10.4049\/jimmunol.166.4.2576","article-title":"A redundant role of the CD3 gamma immunoreceptor tyrosine-based activation motif in mature T cell function","volume":"166","author":"Haks","year":"2001","journal-title":"J Immunol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1056\/NEJM199208203270805","article-title":"Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor","volume":"327","author":"Arnaiz-Villena","year":"1992","journal-title":"N Engl J Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1111\/pai.12063","article-title":"Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity","volume":"24","author":"Tokgoz","year":"2013","journal-title":"Pediatr Allergy Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1111\/sji.12200","volume":"80","author":"Gokturk","year":"2014","journal-title":"Scand J Immunol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2335","DOI":"10.1182\/blood-2018-02-835561","article-title":"Patients with CD3G mutations reveal a role for human CD3\u03b3 in T(reg) diversity and suppressive function","volume":"131","author":"Rowe","year":"2018","journal-title":"Blood"},{"key":"B12","doi-asserted-by":"publisher","first-page":"4007","DOI":"10.1182\/blood.V96.12.4007.h8004000g_4007_4007","article-title":"Fourteen years' follow-up of an autoimmune patient lacking the CD3 gamma subunit of the T-lymphocyte receptor","volume":"96","author":"Allende","year":"2000","journal-title":"Blood"},{"key":"B13","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1007\/s10875-006-9013-7","article-title":"Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan","volume":"26","author":"Lee","year":"2006","journal-title":"J Clin Immunol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1111\/j.1399-3046.2008.00957.x","article-title":"Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease","volume":"12","author":"Ozg\u00fcr","year":"2008","journal-title":"Pediatr Transplant"},{"key":"B15","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1111\/j.1399-3038.2008.00843.x","article-title":"The regulatory function of umbilical cord blood CD4(+) CD25(+) T cells stimulated with anti-CD3\/anti-CD28 and exogenous interleukin (IL)-2 or IL-15","volume":"20","author":"Lee","year":"2009","journal-title":"Pediatr Allergy Immunol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.3389\/fimmu.2017.01066","article-title":"Novel mutations of the tetratricopeptide repeat domain 7A gene and phenotype\/genotype comparison","volume":"8","author":"Lien","year":"2017","journal-title":"Front Immunol"},{"key":"B17","unstructured":"RAPIDLite"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1830","DOI":"10.1093\/bioinformatics\/bts276","article-title":"CUSHAW: a CUDA compatible short read aligner to large genomes based on the Burrows-Wheeler transform","volume":"28","author":"Liu","year":"2012","journal-title":"Bioinformatics."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1881","DOI":"10.1182\/blood-2003-12-4420","article-title":"Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome","volume":"105","author":"Lee","year":"2005","journal-title":"Blood."},{"key":"B21","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1615\/CritRevImmunol.v37.i2-6.100","article-title":"Functions of CD40 and its ligand, gp39 (CD40L)","volume":"37","author":"Laman","year":"2017","journal-title":"Crit Rev Immunol"},{"key":"B22","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1002\/eji.201646574","article-title":"B-cell activation with CD40L or CpG measures the function of B-cell subsets and identifies specific defects in immunodeficient patients","volume":"47","author":"Marasco","year":"2017","journal-title":"Eur J Immunol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.jhep.2007.08.011","article-title":"Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities","volume":"48","author":"Malamut","year":"2008","journal-title":"J Hepatol"},{"key":"B24","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1007\/s10875-013-9873-6","article-title":"Nodular regenerative hyperplasia in common variable immunodeficiency","volume":"33","author":"Fuss","year":"2013","journal-title":"J Clin Immunol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"2484","DOI":"10.1016\/j.jaip.2019.04.016","article-title":"Liver disease is common in patients with common variable immunodeficiency and predicts mortality in the presence of cirrhosis or portal hypertension","volume":"7","author":"Azzu","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"key":"B26","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1182\/blood-2007-06-091744","article-title":"The EUROclass trial: defining subgroups in common variable immunodeficiency","volume":"111","author":"Wehr","year":"2008","journal-title":"Blood"},{"key":"B27","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1002\/cyto.a.22855","article-title":"Age and gender leucocytes variances and references values generated using the standardized ONE-Study protocol","volume":"89","author":"Kverneland","year":"2016","journal-title":"Cytometry"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.02833\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T23:30:50Z","timestamp":1576711850000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.02833\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,19]]},"references-count":27,"alternative-id":["10.3389\/fimmu.2019.02833"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2019.02833","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,19]]},"article-number":"2833"}}