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

Basit Öğe Kaydı
dc.authoridCeyhun Bozkurt / 0000-0001-6771-9894en_US
dc.authoridBaran Erman / 0000-0001-9398-8465
dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authorscopusidCeyhun Bozkurt / 6602784315
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorscopusidBaran Erman / 55214373300
dc.authorwosidCeyhun Bozkurt / AAL-5043-2021
dc.authorwosidBaran Erman / G-1409-2015
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
dc.authorwosidSinem Fırtına / GWI-3127-2022
dc.contributor.authorErman, Baran
dc.contributor.authorFırtına, Sinem
dc.contributor.authorFışgın, Tunç
dc.contributor.authorBozkurt, Ceyhun
dc.contributor.authorErol Çipe, Funda
dc.date.accessioned2020-08-30T20:06:16Z
dc.date.available2020-08-30T20:06:16Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.descriptionBOZKURT, CEYHUN/0000-0001-6771-9894; FIRTINA, Sinem/0000-0002-3370-8545; Erman, Baran/0000-0001-9398-8465en_US
dc.descriptionErman, Baran ; Firtina, Sinem ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)
dc.description.abstractT cell receptor (TCR) complex consists of ?? or ?? TCR chains in combination with four CD3 subunits, CD3?, CD3?, CD3?, and CD? [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 CD3?, CD3?, and CD? mutations usually result in a T- B+ +NK+ SCID phenotype, CD3? 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+ phenotypeen_US
dc.description.sponsorshipCan 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.citationErman, B., Firtina, S., Fisgin, T., Bozkurt, C., & Cipe, F. E. (2020). Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency. JOURNAL OF CLINICAL IMMUNOLOGY, 40(3), 539–542. https://doi.org/10.1007/s10875-020-00752-3en_US
dc.identifier.doi10.1007/s10875-020-00752-3en_US
dc.identifier.endpage542en_US
dc.identifier.issn0271-9142en_US
dc.identifier.issn1573-2592en_US
dc.identifier.issue3en_US
dc.identifier.pmid32016651en_US
dc.identifier.scopus2-s2.0-85078999106en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage539en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00752-3
dc.identifier.urihttps://hdl.handle.net/20.500.12713/449
dc.identifier.volume40en_US
dc.identifier.wosWOS:000515758800001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorErman, Baranen_US
dc.institutionauthorBozkurt, Ceyhunen_US
dc.institutionauthorErol Çipe, Fundaen_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
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 immunodeficiencyen_US
dc.typeLetteren_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
39.pdf
Boyut:
373.48 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu
Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu