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

Erman, Baran; Firtina, Sinem; Fisgin, Tunc; Bozkurt, Ceyhun; Erol Cipe, Funda (Springer/Plenum Publishers, 2020)

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 ...