Associated Papers
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.
Wijngaard R et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
Systemic Autoimmunity in a Patient With CANDLE Syndrome.
Yamazaki-Nakashimada MA et al.
Journal of Investigational Allergology & Clinical Immunology, 2019
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 2018
A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.
Contreras-Cubas C et al.
Scandinavian Journal of Rheumatology, 2018
[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
Feist E et al.
Zeitschrift Fur Rheumatologie, 2017
CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.
Torrelo A
Frontiers in Immunology, 2017
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
Cavalcante MP et al.
European Journal of Pediatrics, 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
A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.
McDermott A et al.
Journal of the American Academy of Dermatology, 2013