[HTML][HTML] gd T lymphocytes in the diagnosis of human T cell receptor immunodeficiencies

B Garcillán, AVM Marin, A Jiménez-Reinoso… - Frontiers in …, 2015 - frontiersin.org
B Garcillán, AVM Marin, A Jiménez-Reinoso, AC Briones, M Muñoz-Ruiz, MJ García-León…
Frontiers in immunology, 2015frontiersin.org
Human T cell receptor (TCR) immunodeficiencies (TCRID) are rare autosomal recessive
disorders caused by mutations affecting TCR, CD3, or CD247 chains, which share
developmental, functional, and TCR expression defects (1). Their rapid diagnosis is
fundamental for patient survival and early hematopoietic stem cell transplantation. Here, we
propose that studying γδ T cells, which are often neglected, can be helpful for a timely
diagnosis. We thus offer a diagnostic flowchart and some lab tricks based on published …
Human T cell receptor (TCR) immunodeficiencies (TCRID) are rare autosomal recessive disorders caused by mutations affecting TCR, CD3, or CD247 chains, which share developmental, functional, and TCR expression defects (1). Their rapid diagnosis is fundamental for patient survival and early hematopoietic stem cell transplantation. Here, we propose that studying γδ T cells, which are often neglected, can be helpful for a timely diagnosis. We thus offer a diagnostic flowchart and some lab tricks based on published cases.
Frontiers