Associated Papers
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Wolfgramm S et al.
Annals of the Rheumatic Diseases, 2025
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.
Ohmura K
Journal of Inflammation Research, 2019
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 2018
[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
Feist E et al.
Zeitschrift Fur Rheumatologie, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.
Torrelo A
Frontiers in Immunology, 2017
Type I interferonopathies in pediatric rheumatology.
Volpi S et al.
Pediatric Rheumatology Online Journal, 2016
Dysfunctional immunoproteasomes in autoinflammatory diseases.
Arimochi H et al.
Inflammation and Regeneration, 2016
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A et al.
The Journal of Clinical Investigation, 2015
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A et al.
International Journal of Dermatology, 2015
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA et al.
Rheumatic Diseases Clinics of North America, 2013
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A et al.
Clinical Immunology (orlando, Fla.), 2013
A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.
Kunimoto K et al.
Dermatology (basel, Switzerland), 2013
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.
Kanazawa N
Journal of Dermatological Science, 2012
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
Kanazawa N
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
Liu Y et al.
Arthritis and Rheumatism, 2012
Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.
Goldbach-Mansky R
Clinical and Experimental Immunology, 2012
[Nakajo-Nishimura syndrome].
Kanazawa N et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011