Associated Papers
"CANDLE syndrome: A closer look at a rare autoinflammatory disorder".
Singh S et al.
Journal of Translational Autoimmunity, 2026
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.
Takeichi T et al.
Frontiers in Immunology, 2020
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC et al.
American Journal of Human Genetics, 2018
Genetic interferonopathies: An overview.
Eleftheriou D et al.
Best Practice & Research. Clinical Rheumatology, 2017
[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
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
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