Chronic infantile neurological, cutaneous, and articular (CINCA) syndrome is a systemic autoinflammatory disease caused by increased production of interleukin (IL)-1β. We present a case of CINCA syndrome followed up to skeletal maturity. Joint contracture and valgus deformity of the knee had developed before diagnosis. Surgical interventions by soft tissue release and hemiepiphysiodesis improved the contracture and the deformity, and IL-1 receptor antagonist dramatically controlled systemic inflammation, and the patient lives without any disabilities.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/14397595.2015.1040609 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Objective: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs).
Methods: We identified potential AIS patients from the electronic medical records at the University of Iowa Hospital and Clinics and the Stead Family Children's Hospital using a screening filter based on the 10th edition of the International Classification of Diseases (ICD-10) codes and interleukin-1 antagonists. Diagnostic criteria for adult-onset Still disease, systemic juvenile idiopathic arthritis, Behçet disease (BD), familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome and chronic nonbacterial osteomyelitis (SAPHO-CNO) were reviewed for each patient.
Revealing the dance of NLRP3: spatiotemporal patterns in inflammasome activation.
Immunometabolism (Cobham)
January 2025
Institute for Systems Biology, Seattle, WA, USA.
The nucleotide-binding domain, leucine-rich repeat, and pyrin domain containing-protein 3 (NLRP3) inflammasome is a multiprotein complex that plays a critical role in the innate immune response to both infections and sterile stressors. Dysregulated NLRP3 activation has been implicated in a variety of autoimmune and inflammatory diseases, including cryopyrin-associated periodic fever syndromes, diabetes, atherosclerosis, Alzheimer's disease, inflammatory bowel disease, and cancer. Consequently, fine-tuning NLRP3 activity holds significant therapeutic potential.
View Article and Find Full Text PDFRenal transplantation in patients with cryopyrin-associated periodic syndrome: A case report and literature review.
Int Immunopharmacol
January 2025
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
January 2025
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 PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!