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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf, Jonas Johannes; Ebstein, Frédéric; Alehashemi, Sara; Piotto, Daniela Gerent Petry; Kozlova, Anna; Terreri, Maria Teresa; Shcherbina, Anna; Rastegar, Andre; Rodrigues, Marta; Pereira, Renan; Park, Sophia; Lin, Bin; Uss, Kat; Möller, Sophie; da Silva Pina, Ana Flávia; Sztajnbok, Flavio; Torreggiani, Sofia; Niemela, Julie; Stoddard, Jennifer; Rosenzweig, Sergio D; Oler, Andrew J; McNinch, Colton; de Guzman, Marietta M; Fonseca, Adriana; Micheloni, Nicole; Fraga, Melissa Mariti; Perazzio, Sandro Félix; Goldbach-Mansky, Raphaela; de Jesus, Adriana A; Krüger, Elke.
Affiliation
  • Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
  • Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
  • Alehashemi S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Piotto DGP; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
  • Kozlova A; Department of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia.
  • Terreri MT; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
  • Shcherbina A; Department of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia.
  • Rastegar A; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Rodrigues M; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
  • Pereira R; Department of Pediatrics, Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, Brazil.
  • Park S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Lin B; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Uss K; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
  • da Silva Pina AF; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
  • Sztajnbok F; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
  • Torreggiani S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Niemela J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
  • Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
  • Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
  • Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • McNinch C; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • de Guzman MM; Section of Pediatric Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
  • Fonseca A; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
  • Micheloni N; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
  • Fraga MM; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
  • Perazzio SF; Division of Rheumatology - Department of Medicine, Universidade Federal de São Paulo (Unifesp), Sao Paulo, Brazil.
  • Goldbach-Mansky R; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • de Jesus AA; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
Front Immunol ; 14: 1190104, 2023.
Article in En | MEDLINE | ID: mdl-37600812
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex / Dermatitis Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Front Immunol Year: 2023 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex / Dermatitis Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Front Immunol Year: 2023 Type: Article Affiliation country: Germany