Abstract
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.
Highlights
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]
As peripheral blood γδ T cells are scarce, their over-representation is more conspicuous than their under-representation, which is very rarely reported and normally associated to a single subset, such as Vδ2+ in granulomatosis [3] or aging [4]
Gene microarray analysis and protein expression of patient thymocytes showed increased levels of TCRγ and TCRδ transcripts and proteins [33], which could be interpreted as presence and significant selection of γδ T cells unable to leave the thymus, perhaps due to insufficient surface TCR compared to partial CD3δ deficiency
Summary
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]. Similar to TCRα deficient patients, patients with partial CD3δ deficiency (CD3δ* in Figure 1) due to a leaky splicing mutation showed strongly reduced αβ T cell numbers and normal absolute but high relative numbers of γδ T cells (Figure 1A), with low surface TCR expression [(13) and Figure 1B].
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
