ArticleFrontiers in immunology2023
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
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Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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23citing papers in PubMed, 1 pooled it
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- JAK inhibitor therapy in CANDLE syndrome: a systematic review of clinical outcomes in 46 patients.European journal of pediatrics · 2026Pooled it
- Article
- Type I Interferonopathies: Fifteen Years On, From Concept to Therapeutic Perspectives.Current rheumatology reports · 2026Review
- Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.American journal of human genetics · 2026Article
- Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.Journal of human immunity · 2026Article
- Magical moments in protease biology: proteasome autocatalytic activation and PI31-mediated inhibition.Trends in biochemical sciences · 2026Review
- Molecular mechanisms in rare proteasomopathies.EULAR rheumatology open · 2026Review
- Skin Organoids in Proteostasis Research: Early Insights into Aging.Biomolecules & therapeutics · 2026Review
- Novel de novo dominantJournal of human immunity · 2026Article
- Recent variant discoveries and emerging genetic mechanisms in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Unveiling the Potential of a New β-Cyclodextrin-Suxibuzone Conjugate in Proteasome Regulation.ChemMedChem · 2025Article
- Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Nature communications · 2025Article
- Genetics of myositis - distinct backgrounds of subtypes.Journal of human genetics · 2025Review
- Strengthening the Role ofInternational journal of molecular sciences · 2025Article
- Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.The Journal of experimental medicine · 2025Review
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- Structural Analysis of the 20S Proteasome Using Native Mass Spectrometry and Ultraviolet Photodissociation.Journal of proteome research · 2024Article
- PSMC5 insufficiency and P320R mutation impair proteasome function.Human molecular genetics · 2024Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.American journal of human genetics · 2024Article
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Authors and funding
30 authors at 9 institutions in 4 countries.
Jonas Johannes PapendorfInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
Frédéric EbsteinInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
Sara AlehashemiTranslational 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.
Daniela Gerent Petry PiottoDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Anna KozlovaDepartment of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia.
Maria Teresa TerreriDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Anna ShcherbinaDepartment of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia.
Andre RastegarTranslational 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.
Marta RodriguesDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Renan PereiraDepartment of Pediatrics, Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, Brazil.
Sophia ParkTranslational 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.
Bin LinTranslational 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.
Kat UssTranslational 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.
Sophie MöllerInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
Ana Flávia da Silva PinaDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Flavio SztajnbokDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Sofia TorreggianiTranslational 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.
Julie NiemelaImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
Jennifer StoddardImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
Andrew J OlerBioinformatics 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.
Colton McNinchBioinformatics 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.
Marietta M de GuzmanSection of Pediatric Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Adriana FonsecaDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Nicole MicheloniDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Melissa Mariti FragaDivision of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
Sandro Félix PerazzioDivision of Rheumatology - Department of Medicine, Universidade Federal de São Paulo (Unifesp), Sao Paulo, Brazil.
Raphaela Goldbach-ManskyTranslational 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.
Adriana A de JesusTranslational 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.
Elke KrügerInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.
Universidade Federal de São Paulo · BRNational Institute of Allergy and Infectious Diseases · USNational Institutes of Health · USUniversitätsmedizin Greifswald · DENational Institutes of Health Clinical Center · USUniversidade Federal do Rio de Janeiro · BRDmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUTexas Children's Hospital · USUniversidade Federal de Ciências da Saúde de Porto Alegre · BR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Patients with CANDLE/PRAAS present with mostly chronically elevated type I interferon scores that emerge as a consequence of increased proteotoxic stress by mechanisms that are not fully understood. Here, we report on five unrelated patients with CANDLE/PRAAS carrying novel inherited proteasome missense and/or nonsense variants. Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes,
Indexed as
DermatitisProteasome Endopeptidase ComplexCytoplasmErythema NodosumFingersHumansSyndromeProteasome Endopeptidase Complexinterferonopathyproteasome associated autoinflammatory syndromeproteasomopathyPSMA5PSMB10PSMB8PSMC5type I interferon
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