Biallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency
Yükleniyor...
Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer/Plenum Publishers
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
T 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+ phenotype
Açıklama
BOZKURT, CEYHUN/0000-0001-6771-9894; FIRTINA, Sinem/0000-0002-3370-8545; Erman, Baran/0000-0001-9398-8465
Erman, Baran ; Firtina, Sinem ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)
Erman, Baran ; Firtina, Sinem ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)
Anahtar Kelimeler
Primary Immunodeficiency, Severe Combined Immunodeficiency, Cd3 Epsilon Deficiency
Kaynak
Journal of Clinical Immunology
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
40
Sayı
3
Künye
Erman, 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/s10875-020-00752-3
