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Renal transplantation in patients with cryopyrin-associated periodic syndrome: A case report and literature review.
Int Immunopharmacol
December 2024
Department of Urology, The First Hospital of Jilin University, Changchun, China. Electronic address:
Background: The cryopyrin-associated periodic syndrome (CAPS) is a rare autosomal dominant hereditary inflammatory disease clinically characterized by three overlapping types and associated with interleukin (IL)-1β.We reported a rare case of CAPS in a patient with accompanying symptoms such as growth retardation and urticaria-like rash. These clinical manifestations were caused by mutations in the NALP3 gene.
View Article and Find Full Text PDFOptic disc changes in Chinese patients with -associated autoinflammatory disease.
Ann Med
December 2025
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: To investigate the optic disc changes (ODC) in Chinese patients with -associated autoinflammatory disease (-AID).
Methods: Patients who were diagnosed with -AID at the Department of Rheumatology, Peking Union Medical College Hospital between April 2015 and December 2022 were retrospectively reviewed and analyzed.
Results: A total of 20 patients were enrolled in this retrospective study.
Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome.
EMBO Mol Med
December 2024
Janssen Interventional Oncology, Turnhoutseweg 30, 2340, Beerse, Belgium.
The NLRP3 inflammasome plays a pivotal role in host defense and drives inflammation against microbial threats, crystals, and danger-associated molecular patterns (DAMPs). Dysregulation of NLRP3 activity is associated with various human diseases, making it an attractive therapeutic target. Patients with NLRP3 mutations suffer from Cryopyrin-Associated Periodic Syndrome (CAPS) emphasizing the clinical significance of modulating NLRP3.
View Article and Find Full Text PDFThe inflammasome adaptor protein ASC promotes amyloid deposition in cryopyrin-associated periodic syndromes.
EMBO Mol Med
December 2024
Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.
Novel Macrocyclic NLRP3 Inhibitors.
J Med Chem
December 2024
Inflazome Ltd., 6 Falcon Way, Shire Park, Welwyn Garden City AL7 1TW, U.K.
Aberrant activation of NLRP3 due to persistent tissue damage, misfolded proteins or crystal deposits has been linked to multiple chronic inflammatory disorders such as cryopyrin-associated periodic syndrome (CAPS), neurodegenerative diseases, gouty arthritis, and numerous others. Hence, there has been an increasing interest in NLRP3 inhibitors as therapeutics. A first generation of NLRP3 inhibitors bearing a sulfonylurea core such as MCC950 (developed by Pfizer) were discovered by phenotypic screening, however their mode of action was only elucidated later.
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