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Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency

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References

  1. Guy CS, Vignali DA. Organization of proximal signal initiation at the TCR:CD3 complex. Immunol Rev. 2009;232(1):7–21.

    Article  CAS  Google Scholar 

  2. Ngoenkam J, Schamel WW, Pongcharoen S. Selected signalling proteins recruited to the T-cell receptor-CD3 complex. Immunology. 2018;153(1):42–50.

    Article  CAS  Google Scholar 

  3. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1:15061.

    Article  Google Scholar 

  4. Firtina S, Ng YY, Ng OH, Nepesov S, Yesilbas O, Kilercik M, et al. A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. Immunogenetics. 2017;69(10):653–9.

    Article  CAS  Google Scholar 

  5. Soudais C, de Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet. 1993;3(1):77–81.

    Article  CAS  Google Scholar 

  6. De Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004;114(10):1512–7.

    Article  Google Scholar 

  7. Fuehrer M, Pannicke U, Schuetz C, Jacobsen EM, Schulz A, Friedrich W, et al. Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3epsilon deficiency: need for IgG-substitution 6 years later. Klin Padiatr. 2014;226(3):149–53.

    Article  CAS  Google Scholar 

  8. Le Deist F, Thoenes G, Corado J, Lisowska-Grospierre B, Fischer A. Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation. Eur J Immunol. 1991;21(7):1641–7.

    Article  Google Scholar 

  9. Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A, Lisowska-Grospierre B. Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. J Biol Chem. 1992;267(1):487–93.

    CAS  PubMed  Google Scholar 

  10. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CD3E Accessed 6 July 2019.

  11. Haddad E, Leroy S, Buckley RH. B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? J Allergy Clin Immunol. 2013;131(4):994–1000.

    Article  CAS  Google Scholar 

  12. Beier R, Schulz A, Hönig M, Eyrich M, Schlegel PG, Holter W, et al. Long-term follow-up of children conditioned with Treosulfan: German and Austrian experience. Bone Marrow Transplant. 2013;48(4):491–501.

    Article  CAS  Google Scholar 

  13. Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, et al. Clinical features and HSCT outcome for SCID in Turkey. J Clin Immunol. 2019;39(3):316–23.

    Article  Google Scholar 

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Acknowledgments

We would like to thank the Can Sucak Candan Biseyler Foundation (CSCBF]) for their support and contributions during the study. The CSCBF was founded in 2018 to honor Can Sucak, who lost his life because of complications of primary immunodeficiency. The CSCBF supports research in the field of primary immunodeficiency and promotes awareness.

We also thank Prof. Dr. Muge Sayitoglu from the Aziz Sancar Institute for Experimental Research, Department of Genetics, Istanbul, Turkey for supporting CD3E primer sets and Monica Özkan for the language editorial support.

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Authors and Affiliations

Authors

Contributions

B.E. and S.F. performed genetic experiments. E.Ö., B.A.A., S.A., G.D., T.F., C.B., and F.E.Ç. provided clinical care of the patients and clinical data. B.A.A., S.A., G.D., T.F., C.B., and F.E.Ç. participated in HSCT. B.E., S.F., and F.E.Ç. wrote the manuscript. All authors critically reviewed the manuscript and agreed to its publication.

Corresponding author

Correspondence to Baran Erman.

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The authors declare that they have no conflict of interest.

Financial Support

This study was partly supported by the “Can Sucak Candan Biseyler” Foundation (CSCBF).

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We obtained informed consent from the patient and his parents for this publication.

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Erman, B., Fırtına, S., Fışgın, T. et al. Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency. J Clin Immunol 40, 539–542 (2020). https://doi.org/10.1007/s10875-020-00752-3

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  • DOI: https://doi.org/10.1007/s10875-020-00752-3

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