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Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

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第一作者： Clara,Franco-Jarava

第一单位： Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.;Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain.

作者： Clara,Franco-Jarava ^[1] ; Elena,Álvarez de la Campa ^[2] ; Xavier,Solanich ^[3] ; Francisco,Morandeira-Rego ^[4] ; Virgínia,Mas-Bosch ^[4] ; Marina,García-Prat ^[5] ; Xavier,de la Cruz ^[6] ; Andrea,Martín-Nalda ^[5] ; Pere,Soler-Palacín ^[5] ; Manuel,Hernández-González ^[1] ; Roger,Colobran ^[7]

作者单位： Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.;Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain. ^[1] Research Unit in Translational Bioinformatics, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain. ^[2] Adult Immunodeficiencies Unit (UFIPA), Internal Medicine Department, Hospital Universitari de Bellvitge (HUB), Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Catalonia, Spain. ^[3] Immunology Laboratory, Hospital de Bellvitge, Barcelona, Catalonia, Spain. ^[4] Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain.;Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP), Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain. ^[5] Research Unit in Translational Bioinformatics, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.;ICREA, Barcelona, Catalonia, Spain. ^[6] Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain. rcolobran@vhebron.net.;Jeffrey Model Foundation Excellence Center, Barcelona, Catalonia, Spain. rcolobran@vhebron.net.;Servei d'Immunologia. Edifici Laboratoris, Planta Baixa, Hospital Universitari Vall d'Hebron (HUVH), Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain. rcolobran@vhebron.net. ^[7]

关键词 Complement system Early diagnosis Factor I deficiency Late diagnosis Meningitis Mutations Pneumonia Primary immunodeficiencies Sepsis