Molecular analysis of T-cell receptor (TCR) repertoire, by measuring the CDR3 heterogeneity length of beta-variable regions (spectratyping), is useful for acquiring novel information on the status of immune system in primary immunodeficiency. Here, we evaluate TCR repertoire in a child with trichothiodystrophy (TTD) and combined immunodeficiency (CID). Spectratyping revealed marked alterations of TCR repertoire distribution: 21 and 10 out of 27 TCR Vbeta (TCRBV) families and subfamilies were skewed in CD8(+) and CD4(+) subsets, respectively. These findings revealed, for the first time in a TTD patient with CID, a marked reduction in the TCR repertoire complexity, which may reflect alterations in the mechanisms regulating the generation and homeostasis of T cells.
Cancrini, C., Romiti, M.l., Di Cesare, S., Angelini, F., Gigliotti, D., Livadiotti, S., et al. (2002). Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia, 56(2), 212-216 [10.1046/j.1365-3083.2002.01122.x].
Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia
CANCRINI, CATERINA;ANGELINI, FEDERICA;ROSSI, PAOLO;
2002-01-01
Abstract
Molecular analysis of T-cell receptor (TCR) repertoire, by measuring the CDR3 heterogeneity length of beta-variable regions (spectratyping), is useful for acquiring novel information on the status of immune system in primary immunodeficiency. Here, we evaluate TCR repertoire in a child with trichothiodystrophy (TTD) and combined immunodeficiency (CID). Spectratyping revealed marked alterations of TCR repertoire distribution: 21 and 10 out of 27 TCR Vbeta (TCRBV) families and subfamilies were skewed in CD8(+) and CD4(+) subsets, respectively. These findings revealed, for the first time in a TTD patient with CID, a marked reduction in the TCR repertoire complexity, which may reflect alterations in the mechanisms regulating the generation and homeostasis of T cells.Questo articolo è pubblicato sotto una Licenza Licenza Creative Commons
