Associated Papers
"CANDLE syndrome: A closer look at a rare autoinflammatory disorder".
Singh S et al.
Journal of Translational Autoimmunity, 2026
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
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
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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