Last Updated: 09/26/2026
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Found 166 publications
Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.
Journal: The Journal of clinical investigation
Published: August 04, 2026
STING-STAT3-SOX18 Axis Drives EndMT and Epigenetic Reprogramming in SAVI Lung Fibrosis.
Journal: bioRxiv : the preprint server for biology
Published: April 29, 2026
Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.
Journal: Indian pediatrics
Published: March 26, 2026
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
Clinical relevance of mosaic variants detected by exome sequencing.
Journal: The Journal of allergy and clinical immunology
Published: September 03, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.
Journal: bioRxiv : the preprint server for biology
Published: September 02, 2025
Neonatal-Onset CANDLE/PRAAS due to PSMB8 p.Gly209Arg: Clinical Course and Baricitinib Response.
Journal: International journal of dermatology
Published: August 28, 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Journal: Annals of the rheumatic diseases
Published: July 24, 2025
Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Last Updated: 09/26/2026