Browsing by Author "Rivière, Jacques G."

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  • Viñas Giménez, Laura; Padilla, Natàlia; Batlle Masó, Laura, 1993-; Casals López, Ferran; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la; Colobran, Roger (Frontiers, 2020)
    Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples ...
  • Soler-Palacín, Pere; Garcia-Prat, Marina; Martín-Nalda, Andrea; Franco-Jarava, Clara; Rivière, Jacques G.; Plaja, Alberto; Bezdan, Daniela; Bosio, Mattia; Martínez-Gallo, Mónica; Ossowski, Stephan; Colobran, Roger (Frontiers, 2018)
    LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, ...