Article
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
Frontiers in immunology - 1 Jan 2021
López-Nevado Marta, Docampo-Cordeiro Jorge, Ramos José T, Rodríguez-Pena Rebeca, Gil-López Celia, Sánchez-Ramón Silvia, Gil-Herrera Juana, Díaz-Madroñero María J, Delgado-Martín María A, Morales-Pérez Pablo, Paz-Artal Estela, Magerus Aude, Rieux-Laucat Frederic, Allende Luis M
Abstract excerpt
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder clinically defined by chronic and benign lymphoproliferation, autoimmunity and an increased risk of lymphoma due to a genetic defect in the FAS-FASL apoptotic pathway. Genetic defects associated with ALPS are germinal and somatic mutations in FAS gene, in addition to germinal mutations in FASLG, FADD, CASP8 and CASP10 genes....
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