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TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava, Clara; Wang, Hongying; Martin-Nalda, Andrea; Alvarez, de la Sierra Daniel; García-Prat, Marina; Bodet, Domingo; García-Patos, Vicenç; Plaja, Alberto; Rudilla, Francesc; Rodriguez-Sureda, Victor; García-Latorre, Laura; Aksentijevich, Ivona; Colobran, Roger; Soler-Palacín, Pere.
Afiliação
  • Franco-Jarava C; Immunology Department, Hospital Universitari Vall d'Hebron, Diagnostic Immunology, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
  • Wang H; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, USA.
  • Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Infection in Immunocompromised Pediatric Patients, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
  • Alvarez SD; Immunology Department, Hospital Universitari Vall d'Hebron, Diagnostic Immunology, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • García-Prat M; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Infection in Immunocompromised Pediatric Patients, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
  • Bodet D; Dermatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • García-Patos V; Dermatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Plaja A; Genetics Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Rudilla F; Banc de Sang i Teixits de Catalunya, Barcelona, Spain.
  • Rodriguez-Sureda V; Drug Delivery and Targeting Group, Molecular Biology and Biochemistry Research Centre for Nanomedicine (CIBBIM-Nanomedicine), Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; Networking Research Centre for Bioengineering, Biomaterials, and Nanomedicine (CIBER-B
  • García-Latorre L; Drug Delivery and Targeting Group, Molecular Biology and Biochemistry Research Centre for Nanomedicine (CIBBIM-Nanomedicine), Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBER-ER), Instituto de Salud
  • Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, USA.
  • Colobran R; Immunology Department, Hospital Universitari Vall d'Hebron, Diagnostic Immunology, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain; Genetics Department, Hospital Universitari Vall d'Hebron, Barc
  • Soler-Palacín P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Infection in Immunocompromised Pediatric Patients, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Clin Immunol ; 191: 44-51, 2018 06.
Article em En | MEDLINE | ID: mdl-29572183
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Deleção Cromossômica / Haploinsuficiência / Proteína 3 Induzida por Fator de Necrose Tumoral alfa / Inflamação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Deleção Cromossômica / Haploinsuficiência / Proteína 3 Induzida por Fator de Necrose Tumoral alfa / Inflamação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha