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Browsing by Author "Franco-Jarava, Clara"

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Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease

Franco-Jarava, Clara; Comas, David, 1969-; Orren, Ann; Hernández-González, M.; Colobran, Roger (Wiley, 2017)

Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species. To date, studies to elucidate the molecular basis of hereditary C5D ...
Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia

Jiménez, Isabel; Tazón-Vega, Bárbara; Abrisqueta, Pau; Nieto, Juan C.; Bobillo, Sabela; Palacio-García, Carles; Carabia, Júlia; Valdés-Mas, Rafael; Munuera, Magdalena; Puigdefàbregas, Lluís; Parra Farré, Genís; Esteve-Codina, Anna; Franco-Jarava, Clara; Iacoboni, Gloria; Terol, María-José; García-Marco, J. A.; Crespo Barrio, Marta; Bosch, Francesc (BioMed Central, 2021)

Background: Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular changes at the time of progression has been observed in a ...
LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy

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, ...

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Browsing by Author "Franco-Jarava, Clara"

Browsing by Author "Franco-Jarava, Clara"

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