Biallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency

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dc.contributor.authorErman, Baran
dc.contributor.authorFırtına, Sinem
dc.contributor.authorFışgın, Tunç
dc.contributor.authorBozkurt, Ceyhun
dc.contributor.authorCipe, Funda Erol
dc.date.accessioned2021-05-15T11:33:52Z
dc.date.available2021-05-15T11:33:52Z
dc.date.issued2020
dc.departmentTıp Fakültesi, Pediatri Anabilim Dalıen_US
dc.descriptionFIRTINA, Sinem/0000-0002-3370-8545; BOZKURT, CEYHUN/0000-0001-6771-9894; Erman, Baran/0000-0001-9398-8465
dc.description.abstractTo the Editor: T cell receptor (TCR) complex consists of αβ or γδ TCR chains in combination with four CD3 subunits, CD3ε, CD3γ, CD3δ, and CDζ [1]. This complex is required for thymocyte development and the initiation of T cell-mediated adaptive immune responses. Although TCR chains bind antigenic peptides presented by MHC molecules, the CD3 subunits provide transduction of signals into the cytosol for the activation and differentiation of T lymphocytes [2]. CD3 deficiencies can cause a rare form of severe combined immunodeficiency (SCID). Although CD3ε, CD3δ, and CDζ mutations usually result in a T- B+ +NK+ SCID phenotype, CD3γ deficiency leads to a milder phenotype with autoimmunity [3]. Only 2% of patients with SCID have TCR defects [3]. The T cell antigen receptor epsilon subunit (CD3E) gene is located at 11q23.3 and has been associated with autosomal recessive SCID [4]. Only a few mutations of the CD3E gene have been identified so far [4–8]. Here, we identified the biallelic form of a known CD3E mutation in a patient with a severe T- B+ NK+ phenotype.en_US
dc.description.sponsorship"Can Sucak Candan Biseyler" Foundation (CSCBF)en_US
dc.description.sponsorshipThis study was partly supported by the "Can Sucak Candan Biseyler" Foundation (CSCBF).en_US
dc.identifier.doi10.1007/s10875-020-00752-3
dc.identifier.endpage542en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue3en_US
dc.identifier.pmid32016651
dc.identifier.scopus2-s2.0-85078999106
dc.identifier.scopusqualityQ1
dc.identifier.startpage539en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00752-3
dc.identifier.urihttps://hdl.handle.net/20.500.12939/243
dc.identifier.volume40en_US
dc.identifier.wosWOS:000515758800001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorFışgın, Tunç
dc.language.isoen
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectSevere Combined Immunodeficiencyen_US
dc.subjectCD3 Epsilon Deficiencyen_US
dc.titleBiallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency
dc.typeLetter

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