Variable presentation of primary immune deficiency: Two cases with CD3 gamma deficiency presenting with only autoimmunity

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dc.contributor.authorTokgoz, Huseyin
dc.contributor.authorCaliskan, Umran
dc.contributor.authorKeles, Sevgi
dc.contributor.authorReisli, Ismail
dc.contributor.authorSanchez Guiu, Isabel
dc.contributor.authorMorgan, Neil V.
dc.date.accessioned2024-02-23T14:24:33Z
dc.date.available2024-02-23T14:24:33Z
dc.date.issued2013
dc.departmentNEÜen_US
dc.description.abstractBackground CD3 chain expression defects including CD3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies (SCID). The phenotype is usually T-B+NK+ SCID with lymphopenia where the clinical findings may be mild (CD3) or severe (CD3, epsilon, ) owing to the underlying molecular defect. There is limited information about the disease in literature. Methods Here, we present two siblings from non-consanguineous family with autoimmunity including Evans syndrome, autoimmune hepatitis, nephrotic syndrome, and Hashimoto's thyroiditis and with no previous history of infections. To define the molecular basis of the disease, we performed linkage analysis around the CD3 receptor cluster and found consistent linkage to this region. Results The patient one displayed low TCR expression, low IgG, low IgA, low IgM, low CD3, low CD4, low CD8. The patient two also displayed low TCR expression and low anti-HBs titer. We went onto identify a homozygous splicing mutation (IVS2-1G>C) in the two affected individuals in the CD3 gene. Discussion To date, only four cases have been reported with CD3 deficiency. Occasionally, the patients present with only autoimmunity including autoimmune hemolytic anemia, vitiligo, Hashimoto's thyroiditis, and autoimmune enteropathy. However, Evans syndrome, autoimmune hepatitis, and nephrotic syndrome have not been reported in previous cases. We believe that our cases will contribute to the literature.en_US
dc.identifier.doi10.1111/pai.12063
dc.identifier.endpage262en_US
dc.identifier.issn0905-6157
dc.identifier.issn1399-3038
dc.identifier.issue3en_US
dc.identifier.pmid23590417en_US
dc.identifier.scopus2-s2.0-84876440663en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage257en_US
dc.identifier.urihttps://doi.org/10.1111/pai.12063
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14008
dc.identifier.volume24en_US
dc.identifier.wosWOS:000317978500008en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatric Allergy And Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCd3 Deficiencyen_US
dc.subjectEvans Syndromeen_US
dc.subjectAutoimmunityen_US
dc.subjectChildrenen_US
dc.titleVariable presentation of primary immune deficiency: Two cases with CD3 gamma deficiency presenting with only autoimmunityen_US
dc.typeArticleen_US

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