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Article Synopsis
- The study investigates the clinical features of patients with cryopyrin-associated periodic syndrome (CAPS) in Japan and assesses the effectiveness and safety of the IL-1 inhibitor canakinumab in treating these patients.
- Out of 101 patients analyzed, a significant majority achieved complete remission with canakinumab, but 23.7% did not respond, experiencing serious complications including deaths and organ damage.
- The research highlights the importance of early intervention and suggests that combining canakinumab with other therapies can be beneficial for those who don't adequately respond to canakinumab alone.
Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria.
BMJ Case Rep
January 2024
Department of Internal Medicine, Meander Medical Centre, Amersfoort, Utrecht, The Netherlands
Article Synopsis
- Muckle-Wells syndrome (MWS) is a genetic condition that causes periodic fever, skin issues, and hearing loss starting in childhood, which can lead to more serious complications like amyloidosis later in life.
- A 60-year-old patient with a history of periodic fevers, skin reactions to cold, and progressive hearing loss was diagnosed with MWS after genetic testing revealed a harmful gene variant.
- Treatment with anakinra improved his symptoms and reduced blood in urine, highlighting the importance of diagnosing such rare syndromes in adults, as it can lead to effective treatment and prevention of serious complications.
JT002, a small molecule inhibitor of the NLRP3 inflammasome for the treatment of autoinflammatory disorders.
Sci Rep
August 2023
Department of Pediatrics, National Jewish Health, Denver, CO, USA.
The NLRP3 inflammasome is an intracellular, multiprotein complex that promotes the auto-catalytic activation of caspase-1 and the subsequent maturation and secretion of the pro-inflammatory cytokines, IL-1β and IL-18. Persistent activation of the NLRP3 inflammasome has been implicated in the pathophysiology of a number of inflammatory and autoimmune diseases, including neuroinflammation, cardiovascular disease, non-alcoholic steatohepatitis, lupus nephritis and severe asthma. Here we describe the preclinical profile of JT002, a novel small molecule inhibitor of the NLRP3 inflammasome.
View Article and Find Full Text PDFSocio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood.
Clin Exp Rheumatol
October 2023
Service de Médecine Interne et Immunologie Clinique, Centre de Référence des Maladies Autoimmunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), Université de Lille, Inserm, CHU Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, Lille, France.
Objectives: Cryopyrin-associated periodic syndromes (CAPS) belongs to the group of hereditary recurrent fever disorders characterised by interleukin1β-mediated systemic inflammation. Specific treatment by IL-1 targeting drugs has significantly modified the disease evolution. We aimed to evaluate the socio-professional impact of CAPS in the long term and the influence of genetic variants in the phenotype.
View Article and Find Full Text PDFSystemic autoinflammatory diseases in pediatric population.
Asia Pac Allergy
July 2022
Pediatric Rheumatology Unit, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Background: Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.
Objective: We aimed to characterize the clinical features of patients with SAID.
Methods: This study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.
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