当前位置： SCI文献检索 > IMMUNOBIOLOGY期刊下所有文献 > Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

Abstract：

:Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both. Here we report three unrelated patients with ALPS-sFAS. Only one of them showed impaired Fas function in PHA-activated T-cells. In this patient, the genetic analysis of the caspase-10 gene (CASP10) identified a heterozygous germline change in exon 9 (c.1337A>G) causing Y446C substitution in the caspase-10 protein. In addition, this patient had a dysregulated T- and B-cell phenotype; circulating lymphocytes showed expansion of T effector memory CD45RA+ (TEMRA) CD4 T-cells, effector memory CD8 T-cells, CD21(low) B-cells and reduced memory switched B-cells. Additionally, this patient showed altered expression in T-cells of several molecules that change during differentiation from naïve to effector cells (CD27, CD95, CD57 and perforin). Molecular alterations in genes of the Fas pathway are necessary for the development of ALPS and this syndrome could be influenced by the concurrent effect of other mutations hitting different genes involved in Fas or related pathways.

journal_name

Immunobiology

journal_title

Immunobiology

authors

Martínez-Feito A,Melero J,Mora-Díaz S,Rodríguez-Vigil C,Elduayen R,González-Granado LI,Pérez-Méndez D,Sánchez-Zapardiel E,Ruiz-García R,Menchén M,Díaz-Madroñero J,Paz-Artal E,Del Orbe-Barreto R,Riñón M,Allende LM

doi

10.1016/j.imbio.2015.08.004

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

40-7

issue

1

eissn

0171-2985

issn

1878-3279

pii

S0171-2985(15)30044-9

journal_volume

221

pub_type

杂志文章

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