Associated Papers
"CANDLE syndrome: A closer look at a rare autoinflammatory disorder".
Singh S et al.
Journal of Translational Autoimmunity, 2026
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI et al.
American Journal of Human Genetics, 2024
Proteasome disorders and inborn errors of immunity.
Poli MC
Immunological Reviews, 2024
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
31127050 (PubMed )
Supplement: pnas.1815601116.sapp.pdf
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
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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