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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda, Andrea; Fortuny, Claudia; Rey, Lourdes; Bunney, Tom D; Alsina, Laia; Esteve-Solé, Ana; Bull, Daniel; Anton, Maria Carmen; Basagaña, María; Casals, Ferran; Deyá, Angela; García-Prat, Marina; Gimeno, Ramon; Juan, Manel; Martinez-Banaclocha, Helios; Martinez-Garcia, Juan J; Mensa-Vilaró, Anna; Rabionet, Raquel; Martin-Begue, Nieves; Rudilla, Francesc; Yagüe, Jordi; Estivill, Xavier; García-Patos, Vicente; Pujol, Ramon M; Soler-Palacín, Pere; Katan, Matilda; Pelegrín, Pablo; Colobran, Roger; Vicente, Asun; Arostegui, Juan I.
Afiliación
  • Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Fortuny C; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
  • Rey L; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Bunney TD; Department of Pediatrics, Hospital Sant Joan de Deu, Esplugues, Spain.
  • Alsina L; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.
  • Esteve-Solé A; Department of Pediatrics, Hospital Alvaro Cunqueiro, Vigo, Spain.
  • Bull D; Institute of Structural and Molecular Biology, University College London, London, UK.
  • Anton MC; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.
  • Basagaña M; Department of Allergy and Clinical Immunology Clinical Immunology and Primary, Immunodeficiencies Unit, Hospital Sant Joan de Déu, Esplugues, Spain.
  • Casals F; Clinical Immunology Unit, Hospital Sant Joan de Déu-Hospital Clínic, Barcelona, Spain.
  • Deyá A; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.
  • García-Prat M; Department of Allergy and Clinical Immunology Clinical Immunology and Primary, Immunodeficiencies Unit, Hospital Sant Joan de Déu, Esplugues, Spain.
  • Gimeno R; Clinical Immunology Unit, Hospital Sant Joan de Déu-Hospital Clínic, Barcelona, Spain.
  • Juan M; ARUK Drug Discovery Institute, University College London, London, UK.
  • Martinez-Banaclocha H; Department of Immunology-CDB (esc 4-pl 0), Hospital Clínic, Villarroel, 170, 08036, Barcelona, Spain.
  • Martinez-Garcia JJ; Allergy Section, Hospital Universitari Germans Trias i Pujol, Autonomous University of Barcelona, Badalona, Spain.
  • Mensa-Vilaró A; Genomics Core Facility, Experimental and Health Sciences Department, Universitat Pompeu Fabra, Barcelona, Spain.
  • Rabionet R; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.
  • Martin-Begue N; Department of Allergy and Clinical Immunology Clinical Immunology and Primary, Immunodeficiencies Unit, Hospital Sant Joan de Déu, Esplugues, Spain.
  • Rudilla F; Clinical Immunology Unit, Hospital Sant Joan de Déu-Hospital Clínic, Barcelona, Spain.
  • Yagüe J; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Estivill X; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
  • García-Patos V; Department of Immunology, Hospital del Mar, Institut Mar d'Investigacions Mèdiques, Barcelona, Spain.
  • Pujol RM; Department of Immunology-CDB (esc 4-pl 0), Hospital Clínic, Villarroel, 170, 08036, Barcelona, Spain.
  • Soler-Palacín P; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
  • Katan M; School of Medicine, Universitat de Barcelona, Barcelona, Spain.
  • Pelegrín P; Instituto Murciano de Investigación Biosanitaria IMIB-Arrixaca, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  • Colobran R; Instituto Murciano de Investigación Biosanitaria IMIB-Arrixaca, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  • Vicente A; Department of Immunology-CDB (esc 4-pl 0), Hospital Clínic, Villarroel, 170, 08036, Barcelona, Spain.
  • Arostegui JI; Institut de Recerca Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Spain.
J Clin Immunol ; 40(7): 987-1000, 2020 10.
Article en En | MEDLINE | ID: mdl-32671674
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Agammaglobulinemia / Fosfolipasa C gamma / Enfermedades Autoinflamatorias Hereditarias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: España
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Agammaglobulinemia / Fosfolipasa C gamma / Enfermedades Autoinflamatorias Hereditarias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: España