Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

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第一作者： Laura,Batlle-Masó

第一单位： Infection and Immunity Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.

作者： Laura,Batlle-Masó ^[1] ; Jacques G,Rivière ^[2] ; Clara,Franco-Jarava ^[3] ; Andrea,Martín-Nalda ^[4] ; Marina,Garcia-Prat ^[1] ; Alba,Parra-Martínez ^[2] ; Aina,Aguiló-Cucurull ^[3] ; Neus,Castells ^[3] ; Mónica,Martinez-Gallo ^[5] ; Pere,Soler-Palacín ^[6] ; Roger,Colobran ^[1]

作者单位： Infection and Immunity Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[1] Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Children's Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[2] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain. ^[3] Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain. ^[4] Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[5] Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[6] Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[7] Medicine Genetics Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. ^[8] Infection and Immunity Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. pere.soler@vallhebron.cat. ^[9] Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Children's Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. pere.soler@vallhebron.cat. ^[10] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain. pere.soler@vallhebron.cat. ^[11] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat. ^[12] Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat. ^[13] Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat. ^[14] Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat. ^[15] Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain. roger.colobran@vallhebron.cat. ^[16]

关键词 Chronic granulomatous disease Copy number variation Intronic variants Mosaicism Next-generation sequencing X-chromosome inactivation