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

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Date

2020

Author

Erman, Baran
Firtina, Sinem
Fisgin, Tunc
Bozkurt, Ceyhun
Erol Cipe, Funda

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Citation

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

Abstract

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

Source

Journal of Clinical Immunology

Volume

40

Issue

3

URI

https://doi.org/10.1007/s10875-020-00752-3
https://hdl.handle.net/20.500.12713/449

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  • WoS İndeksli Yayınlar Koleksiyonu [1328]



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