CD3G Gene Defects in Familial Autoimmune Thyroiditis

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dc.contributor.authorGokturk, B.
dc.contributor.authorKeles, S.
dc.contributor.authorKirac, M.
dc.contributor.authorArtac, H.
dc.contributor.authorTokgoz, H.
dc.contributor.authorGuner, S. N.
dc.contributor.authorCaliskan, U.
dc.date.accessioned2020-03-26T18:49:40Z
dc.date.available2020-03-26T18:49:40Z
dc.date.issued2014
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractThe patients with CD3 deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported non-consanguineous family with two CD3gamma-deficient siblings with the same mutation. The median age at diagnosis was 11years (14months-20years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n=5), autoimmune haemolytic anaemia (n=2), immune thrombocytopenia (n=1), autoimmune hepatitis (n=1), minimal change nephrotic syndrome (n=1), vitiligo (n=1) and positive antinuclear antibodies (n=3) as well as high IgE (n=2) and atopic eczema (n=2). While CD3(+)TCR+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+)T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n=6; in 67%), and frequent autoimmunity in family members not available for testing (n=5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.en_US
dc.identifier.doi10.1111/sji.12200en_US
dc.identifier.endpage361en_US
dc.identifier.issn0300-9475en_US
dc.identifier.issn1365-3083en_US
dc.identifier.issue5en_US
dc.identifier.pmid24910257en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage354en_US
dc.identifier.urihttps://dx.doi.org/10.1111/sji.12200
dc.identifier.urihttps://hdl.handle.net/20.500.12395/30661
dc.identifier.volume80en_US
dc.identifier.wosWOS:000343924800007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWILEYen_US
dc.relation.ispartofSCANDINAVIAN JOURNAL OF IMMUNOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleCD3G Gene Defects in Familial Autoimmune Thyroiditisen_US
dc.typeArticleen_US

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