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.
2002
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
CD4 antigen; CD8 antigen; T lymphocyte receptor; article; case report; evaluation; homeostasis; human; immune system; infant; lymphocytopenia; male; measurement; molecular biology; priority journal; regulatory mechanism; T lymphocyte; trichothiodystrophy; ATP-Binding Cassette Transporters; Case-Control Studies; CD4-Positive T-Lymphocytes; Child, Preschool; Gene Rearrangement, T-Lymphocyte; Hair Diseases; Humans; Lymphopenia; Male; Receptors, Antigen, T-Cell
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].
Cancrini, C; Romiti, Ml; Di Cesare, S; Angelini, F; Gigliotti, D; Livadiotti, S; Bertini, E; Rossi, P; Racioppi, L
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/57595
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