Title:
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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
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Author:
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Martín-Nalda, Andrea; Fortuny Guasch, Claudia; Rey, Lourdes; Bunney, Tom D.; Alsina Manrique, Laia; Esteve-Solé, Ana; Bull, Daniel; Anton, Maria Carmen; Basagaña, Maria; Casals, Ferran; Deyà-Martínez, Ángela; Garcia-Prat, Marina; Gimeno, Ramon; Juan, Manel; Martinez-Banaclocha, Helios; Martinez-Garcia, Juan J.; Mensa-Vilaró, Anna; Rabionet, Raquel; Martin-Begue, Nieves; Rudilla, Francesc; Estivill, Xavier; García-Patos Briones, Vicente; Pujol, Ramon Maria; Soler-Palacín, Pere; Katan, Matilda; Pelegrín, Pablo; Colobrán Oriol, Roger; Vicente, Asun; Aróstegui, Juan Ignacio
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Abstract:
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Altres ajuts: This work has been partially funded by the following: CERCA Programme/Generalitat de Catalunya (JIA), grant from the Spanish Ministry of Economy and Competitiveness co-financed by European Regional Development Fund (ERDF) (JIA), grant from the Spanish Ministry of Science, Innovation and Universities co-financed by ERDF (JIA), grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA), grant from the Instituto de Salud Carlos III co-financed by ERDF (RC), grant from the Spanish Ministry of Economy and Competitiveness co-financed by ERDF (PP), grant from the Spanish Ministry of Economy, Industry and Competitiveness co-financed by ERDF (PP), ERC-2013-CoG project 614578 from the European Research Council (PP), 20859/PI/18 grant from Fundación Séneca (PP), grant from the Spanish Ministry of Economy and Competitiveness co-financed by ERDF (FC) and grant from the Spanish Ministry of Science, Innovation and Universities co-financed by ERDF (FC). MK acknowledges support from CRUK (A16567) and MRC (P028160). H M-B is a Rio Hortega fellowship from Instituto de Salud Carlos III and DB acknowledges support from the UCL Impact Studentship. |
Abstract:
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The online version of this article (10.1007/s10875-020-00794-7) contains supplementary material, which is available to authorized users. |
Subject(s):
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-Autoinflammatory diseases -APLAID -PLCγ2 -Inflammasome -Caspase-1 -Interleukin-1 -Agammaglobulinemia |
Rights:
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open access
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Document type:
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Article |
Published by:
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Uri:
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https://ddd.uab.cat/record/233048
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