Article
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Blood - 5 May 2016
Janda Ales, Schwarz Klaus, van der Burg Mirjam, Vach Werner, Ijspeert Hanna, Lorenz Myriam Ricarda, Elgizouli Magdeldin, Pieper Kathrin, Fisch Paul, Hagel Joachim, Lorenzetti Raquel, Seidl Maximilian, Roesler Joachim, Hauck Fabian, Traggiai Elisabetta, Speckmann Carsten, Rensing-Ehl Anne, Ehl Stephan, Eibel Hermann, Rizzi Marta
Abstract excerpt
Fas is a transmembrane receptor involved in the maintenance of tolerance and immune homeostasis. In murine models, it has been shown to be essential for deletion of autoreactive B cells in the germinal center. The role of Fas in human B-cell selection and in development of autoimmunity in patients carrying FAS mutations is unclear. We analyzed patients with either a somatic FAS mutation or a germline FAS mutation...
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