References
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64.
Alarcón B, Gil D, Delgado P, Schamel WW. Initiation of TCR signaling: regulation within CD3 dimers. Immunol Rev. 2003;191:38–46.
Daley SR, Koay HF, Dobbs K, Bosticardo M, Wirasinha RC, Pala F, et al. Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices. J Allergy Clin Immunol. 2019;144(1):333–6.
O’Donnell SM, Janssen SR. The initiation codon affects ribosome binding and translational efficiency in Escherichia coli of cI mRNA with or without the 5′ untranslated leader. J Bacteriol. 2001;183(4):1277–83.
Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, et al. Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol. 2007;178(4):2556–64.
Fischer A, de Saint Basile G, Le Deist F. CD3 deficiencies. Curr Opin Allergy Clin Immunol. 2005;5(6):491–5.
Pacheco-Castro A, Alvarez-Zapata D, Serrano-Torres P, Regueiro JR. Signaling through a CD3 gamma-deficient TCR/CD3 complex in immortalized mature CD4+ and CD8+ T lymphocytes. J Immunol. 1998;161(6):3152–60.
Rowe JH, Delmonte OM, Keles S, Stadinski BD, Dobbs AK, Henderson LA, et al. Patients with CD3G mutations reveal a role for human CD3γ in T(reg) diversity and suppressive function. Blood. 2018;131(21):2335–44. https://doi.org/10.1182/blood-2018-02-835561.
Acknowledgments
We thank the patient and his parents, and healthy volunteers, for participating in this work.
Funding
This study was supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, and the Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH.
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O.M.D., J.H.R., L.D.N. conceived the study and designed the experiments. J.H.R., O.M.D., R.C. and L.D.N. analyzed the data and drafted the manuscript. O.M.D., J.H.R. provided clinical care. O.M.D., J.H.R., A.K.D., B.P. performed the experiments and analyzed the data. All authors read and approved the final manuscript.
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Delmonte, O.M., Rowe, J.H., Dobbs, A.K. et al. Complete Absence of CD3γ Protein Expression Is Responsible for Combined Immunodeficiency with Autoimmunity Rather than SCID. J Clin Immunol 41, 482–485 (2021). https://doi.org/10.1007/s10875-020-00918-z
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DOI: https://doi.org/10.1007/s10875-020-00918-z