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Decreased function of Fas and variations of the perforin gene in adult patients with primary immune thrombocytopenia.

Authors :
Boggio, Elena
Gigliotti, Casimiro L.
Rossi, Davide
Toffoletti, Eleonora
Cappellano, Giuseppe
Clemente, Nausicaa
Puglisi, Simona
Lunghi, Monia
Cerri, Michaela
Vianelli, Nicola
Cantoni, Silvia
Tieghi, Alessia
Beggiato, Eloise
Gaidano, Gianluca
Comi, Cristoforo
Chiocchetti, Annalisa
Fanin, Renato
Dianzani, Umberto
Zaja, Francesco
Source :
British Journal of Haematology; Jan2017, Vol. 176 Issue 2, p258-267, 10p
Publication Year :
2017

Abstract

A defective switching off of the immune response is involved in several autoimmune diseases. This switching off involves Fas-mediated apoptosis, perforin-mediated fratricide of activated lymphocytes, and the suppressive activity of regulatory T (Treg) cells. These mechanisms are altered in autoimmune lymphoproliferative syndrome that often displays autoimmune thrombocytopenia. The aim of this research was to evaluate these mechanisms in adult patients with primary immune thrombocytopenia ( ITP), compared with healthy controls. The results show that a substantial subgroup of the ITP patients displayed a defective Fas function; most of them displayed decreased Fas expression in T cells activated in vitro. Moreover, ITP patients displayed an increased frequency of rare missense variations of the PRF1 gene and decreased levels of Treg. Immunological analysis showed that levels of Interleukin ( IL)10 and IL17 were decreased and marginal zone B cells were increased. Moreover, myeloid and plasmacytoid dendritic cells were decreased in ITP patients. In conclusion, in adult ITP patients, several mechanisms involved in shutting off the immune response are defective and several immunological parameters are dysregulated; these alterations may play a role in the clinical heterogeneity of the disease. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00071048
Volume :
176
Issue :
2
Database :
Complementary Index
Journal :
British Journal of Haematology
Publication Type :
Academic Journal
Accession number :
120746794
Full Text :
https://doi.org/10.1111/bjh.14248