Last Updated: 09/26/2026
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Found 34 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
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
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
Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.
Journal: Nature reviews. Rheumatology
Published: October 17, 2024
Sustained Interferon Signature Suppression With Anifrolumab in a Patient With STING-Associated Vasculopathy with Onset in Infancy Refractory to JAK Inhibitor and Dazukibart Therapy.
Journal: Arthritis & rheumatology (Hoboken, N.J.)
Published: May 11, 2024
Savvy About SAVI.
Journal: American journal of respiratory and critical care medicine
Published: April 17, 2024
Last Updated: 09/26/2026