Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia.
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.
Division of Immunology and Infectius Deseases, Children's Hospital Bambino Gensù, University of Rome Tor bbergata, Rome, Italy. cancrini@opbg.net
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C
Cancrini
M L
ML
Romiti
S
S
Di Cesare
F
F
Angelini
D
D
Gigliotti
S
S
Livadiotti
E
E
Bertini
P
P
Rossi
L
L
Racioppi
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology*; D016022:Case-Control Studies; D002675:Child, Preschool; D015329:Gene Rearrangement, T-Lymphocyte; D006201:Hair Diseases / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D008231:Lymphopenia / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D008297:Male; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*
D018528:ATP-Binding Cassette Transporters; C109399:Cdr3 protein, Candida albicans; D011948:Receptors, Antigen, T-Cell