{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:23:20Z","timestamp":1791145400560,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,4,16]],"date-time":"2013-04-16T00:00:00Z","timestamp":1366070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2013,5]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>CD<\/jats:styled-content>3 chain expression defects including CD<\/jats:styled-content>3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies (SCID<\/jats:styled-content>). The phenotype is usually T<\/jats:styled-content>\u2010B<\/jats:styled-content>+NK<\/jats:styled-content>+ SCID<\/jats:styled-content> with lymphopenia where the clinical findings may be mild (CD<\/jats:styled-content>3\u03b3) or severe (CD<\/jats:styled-content>3\u03b4, \u03b5, \u03b6) owing to the underlying molecular defect. There is limited information about the disease in literature.<\/jats:p><\/jats:sec>Methods<\/jats:title>Here, we present two siblings from non\u2010consanguineous family with autoimmunity including E<\/jats:styled-content>vans syndrome, autoimmune hepatitis, nephrotic syndrome, and H<\/jats:styled-content>ashimoto's thyroiditis and with no previous history of infections. To define the molecular basis of the disease, we performed linkage analysis around the CD<\/jats:styled-content>3 receptor cluster and found consistent linkage to this region.<\/jats:p><\/jats:sec>Results<\/jats:title>The patient one displayed low TCR<\/jats:styled-content>\u03b1\u03b2 expression, low I<\/jats:styled-content>gG<\/jats:styled-content>, low I<\/jats:styled-content>gA<\/jats:styled-content>, low I<\/jats:styled-content>gM<\/jats:styled-content>, low CD<\/jats:styled-content>3, low CD<\/jats:styled-content>4, low CD<\/jats:styled-content>8. The patient two also displayed low TCR<\/jats:styled-content>\u03b1\u03b2 expression and low anti\u2010HB<\/jats:styled-content>s titer. We went onto identify a homozygous splicing mutation (IVS<\/jats:styled-content>2\u20101G<\/jats:styled-content>>C<\/jats:styled-content>) in the two affected individuals in the CD<\/jats:styled-content>3\u03b3 gene.<\/jats:p><\/jats:sec>Discussion<\/jats:title>To date, only four cases have been reported with CD<\/jats:styled-content>3\u03b3 deficiency. Occasionally, the patients present with only autoimmunity including autoimmune hemolytic anemia, vitiligo, H<\/jats:styled-content>ashimoto's thyroiditis, and autoimmune enteropathy. However, E<\/jats:styled-content>vans syndrome, autoimmune hepatitis, and nephrotic syndrome have not been reported in previous cases. We believe that our cases will contribute to the literature.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.12063","type":"journal-article","created":{"date-parts":[[2013,4,17]],"date-time":"2013-04-17T04:29:51Z","timestamp":1366172991000},"page":"257-262","source":"Crossref","is-referenced-by-count":42,"title":["Variable presentation of primary immune deficiency: Two cases with CD<\/scp>3 gamma deficiency presenting with only autoimmunity"],"prefix":"10.1111","volume":"24","author":[{"given":"Huseyin","family":"Tokgoz","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology Necmettin Erbakan University Meram Faculty of Medicine Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umran","family":"Caliskan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Necmettin Erbakan University Meram Faculty of Medicine Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevgi","family":"Keles","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology Necmettin Erbakan University Meram Faculty of Medicine Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130smail","family":"Reisli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology Necmettin Erbakan University Meram Faculty of Medicine Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel S\u00e1nchez","family":"Guiu","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Sciences Institute of Biomedical Research College of Medical and Dental Sciences University of Birmingham Birmingham UK"},{"name":"Regional Blood Donation Centre and University of Murcia Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil V.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Sciences Institute of Biomedical Research College of Medical and Dental Sciences University of Birmingham Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,16]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"54","article-title":"Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency","volume":"2","author":"Al\u2010Herz W","year":"2011","journal-title":"Front Immunol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri2336"},{"key":"e_1_2_6_4_1","first-page":"216","volume-title":"Primary Immunodeficiency Diseases: A Molecular and Genetic Approach","author":"Regueiro JR","year":"2007"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2008.00957.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199208203270805"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V96.12.4007a"},{"key":"e_1_2_6_8_1","first-page":"41","article-title":"CD3 g chain deficiency leads to a cellular immunodeficiency with mild clinical presentation","volume":"1","author":"Van Tol MJD","year":"1997","journal-title":"Immunologist"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)91413-3"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.7.1871"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"2437","DOI":"10.4049\/jimmunol.148.8.2437","article-title":"Failure to synthesize the CD3\u2010gamma chain. Consequences for T cell antigen receptor assembly, processing, and expression","volume":"8","author":"Geisler C","year":"1992","journal-title":"J Immunol"}],"container-title":["Pediatric Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpai.12063","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pai.12063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T09:01:11Z","timestamp":1697274071000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pai.12063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,16]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/pai.12063"],"URL":"https:\/\/doi.org\/10.1111\/pai.12063","archive":["Portico"],"relation":{},"ISSN":["0905-6157","1399-3038"],"issn-type":[{"value":"0905-6157","type":"print"},{"value":"1399-3038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,16]]}}}