Biallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency
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/s10875-020-00752-3Abstract
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