Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247
AV Marin, A Jiménez-Reinoso, AC Briones… - Journal of Allergy and …, 2017 - jacionline.org
To the Editor: T lymphocytes detect antigens with the T-cell receptor (TCR) composed of a
variable heterodimer (either ab or gd), 2 invariant heterodimers (CD3gε and CD3dε), and an
invariant homodimer (CD247 or zz). 1 Because of the crucial role of TCR signaling in thymic
selection, mutations in TCR, CD3, or CD247 selectively impair T-cell development, albeit to
different degrees: deficiency of CD3dor CD3ε, but not of CD3gor CD247, causes severe T-
cell lymphopenia. Their clinical outcome is also disparate, because CD3g deficiency does …
variable heterodimer (either ab or gd), 2 invariant heterodimers (CD3gε and CD3dε), and an
invariant homodimer (CD247 or zz). 1 Because of the crucial role of TCR signaling in thymic
selection, mutations in TCR, CD3, or CD247 selectively impair T-cell development, albeit to
different degrees: deficiency of CD3dor CD3ε, but not of CD3gor CD247, causes severe T-
cell lymphopenia. Their clinical outcome is also disparate, because CD3g deficiency does …
