Abstract
The T–cell receptor (TCR) is composed of two glycoproteins (α and β or γ and δ) associated with four invariant polypeptides (CD3–γ, δ, ε and ζ). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry the CD3–ε chain is central to CD3 core assembly and full complex formation. We have described previously defective expression of the TCR/CD3 complex in an immunodeficient child. We now report that two independent CD3–ε gene mutations present in the parents have segregated in the patient, leading to defective CD3–ε chain synthesis and preventing normal association and membrane expression of the TCR/CD3 complex.
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Soudais, C., de Villartay, JP., Le Deist, F. et al. Independent mutations of the human CD3–ε gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet 3, 77–81 (1993). https://doi.org/10.1038/ng0193-77
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DOI: https://doi.org/10.1038/ng0193-77
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