Congenital T-cell receptor immunodeficiencies

T-cell receptor (TCR) immunodeficiencies of humans are low-prevalence autosomal recessive diseases characterized by impaired surface TCR expression and selective T lymphopenia (milder in CD3γ, TCRα or CD247 deficiency, and severe in individuals lacking CD3δ or CD3ε). The congenital absence of TCR components has a differential impact on T-cell development and function depending on the affected TCR chain and on the species, with human patients being, in some cases, rather different from mouse counterparts. The study of the immunophenotype by flow cytometry, along with molecular analyses, provides essential information for diagnosis and treatment, which is still to date the transplant of hematopoietic progenitors in severe immunodeficiency associated cases. © 2012 Sociedad Española de Inmunología. Published by Elsevier España, S.L. All rights reserved.