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Autor:
Deyà-Martínez, Angela, Rivière, Jaques G., Roxo-Junior, Pérsio, Ramakers, Jan, Bloomfield, Markéta, Guisado Hernandez, Paloma, Olbrich, Peter
Introduction Since the frst description of gain of function (GOF) mutations in signal transducer and activator of transcrip tion (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immu
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https://explore.openaire.eu/search/publication?articleId=od______3272::5b4eae4a4bbf9b1851128dcb93164056
Akademický článek
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Akademický článek
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Autor:
Deyà-Martínez A; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Program Hospital, Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain., Rivière JG; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain., Roxo-Junior P; Division of Immunology and Allergy, Dept of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Ramakers J; Department of Pediatrics, Hospital Universitari Son Espases, Palma, Spain.; Multidisciplinary Group for Research in Peadiatrics, Hospital Universitari Son Espases, Balearic Islands Health Research Institute (IdISBa), Palma, Spain., Bloomfield M; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.; Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague, Thomayer University Hospital, Prague, Czech Republic., Guisado Hernandez P; Laboratorio de Alteraciones Congénitas de La Inmunidad, Instituto de Biomedicina de Sevilla (IBiS), Laboratorio 205, Seville, Spain., Blanco Lobo P; Laboratorio de Alteraciones Congénitas de La Inmunidad, Instituto de Biomedicina de Sevilla (IBiS), Laboratorio 205, Seville, Spain., Abu Jamra SR; Division of Immunology and Allergy, Dept of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Esteve-Sole A; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Program Hospital, Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain., Kanderova V; Inborn Errors of Immunity Group, Laboratory 205, Instituto de Biomedicina de Sevilla (IBiS), Seville, Spain., García-García A; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Program Hospital, Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain., Lopez-Corbeto M; Pediatric Rheumatology Unit, Rheumatology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Martinez Pomar N; Immunology Department, Hospital Universitari Son Espases, Palma, Spain.; Human Immunopathology Research Laboratory, Institut d'Investigació Sanitària de Les Illes Balears (IdISBa), Palma, Spain., Martín-Nalda A; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain., Alsina L; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Program Hospital, Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain., Neth O; Laboratorio de Alteraciones Congénitas de La Inmunidad, Instituto de Biomedicina de Sevilla (IBiS), Laboratorio 205, Seville, Spain. oneth-ibis@us.es.; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocio, Sevilla, Spain. oneth-ibis@us.es., Olbrich P; Laboratorio de Alteraciones Congénitas de La Inmunidad, Instituto de Biomedicina de Sevilla (IBiS), Laboratorio 205, Seville, Spain. polbrich@us.es.; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocio, Sevilla, Spain. polbrich@us.es.; Departamento de Farmacología, Pediatría y Radiología. Facultad de Medicina, Universidad de Sevilla, Seville, Spain. polbrich@us.es.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2022 Jul; Vol. 42 (5), pp. 1071-1082. Date of Electronic Publication: 2022 Apr 29.