These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. Sobolewska B; Angermair E; Deuter C; Doycheva D; Kuemmerle-Deschner J; Zierhut M J Rheumatol; 2016 Jun; 43(6):1101-6. PubMed ID: 27134254 [TBL] [Abstract][Full Text] [Related]
23. Guidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS). Terreri MT; Bernardo WM; Len CA; da Silva CA; de Magalhães CM; Sacchetti SB; Ferriani VP; Piotto DG; Cavalcanti Ade S; de Moraes AJ; Sztajnbok FR; de Oliveira SK; Campos LM; Bandeira M; Santos FP; Magalhães CS Rev Bras Reumatol Engl Ed; 2016; 56(1):44-51. PubMed ID: 27267333 [TBL] [Abstract][Full Text] [Related]
24. Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients. Ohnishi H; Teramoto T; Iwata H; Kato Z; Kimura T; Kubota K; Nishikomori R; Kaneko H; Seishima M; Kondo N J Clin Immunol; 2012 Apr; 32(2):221-9. PubMed ID: 22193915 [TBL] [Abstract][Full Text] [Related]
25. CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease. Kuemmerle-Deschner JB Semin Immunopathol; 2015 Jul; 37(4):377-85. PubMed ID: 25963520 [TBL] [Abstract][Full Text] [Related]
26. "Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. Hedrich CM; Bruck N; Paul D; Hahn G; Gahr M; Rösen-Wolff A Rheumatol Int; 2012 Sep; 32(9):2629-36. PubMed ID: 21833523 [TBL] [Abstract][Full Text] [Related]
27. Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. Finetti M; Omenetti A; Federici S; Caorsi R; Gattorno M Orphanet J Rare Dis; 2016 Dec; 11(1):167. PubMed ID: 27927236 [TBL] [Abstract][Full Text] [Related]
28. Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome. Koné-Paut I; Galeotti C Expert Rev Clin Immunol; 2015; 11(10):1083-92. PubMed ID: 26312542 [TBL] [Abstract][Full Text] [Related]
29. [Pathophysiological mechanisms underlying cryopyrin-associated periodic syndromes: genetic and molecular basis and the inflammasome]. Aróstegui JI Med Clin (Barc); 2011 Jan; 136 Suppl 1():22-8. PubMed ID: 21596183 [TBL] [Abstract][Full Text] [Related]
30. Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy. Paloni G; Pastore S; Tommasini A; Lepore L; Taddio A Clin Exp Rheumatol; 2015; 33(5):766. PubMed ID: 26316056 [No Abstract] [Full Text] [Related]
32. Muckle-Wells syndrome in Chinese patients: a single center case series. Wu D; Shen M Clin Rheumatol; 2017 Apr; 36(4):965-969. PubMed ID: 28028683 [TBL] [Abstract][Full Text] [Related]
33. Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Rowczenio DM; Trojer H; Russell T; Baginska A; Lane T; Stewart NM; Gillmore JD; Hawkins PN; Woo P; Mikoluc B; Lachmann HJ Arthritis Res Ther; 2013 Feb; 15(1):R30. PubMed ID: 23421920 [TBL] [Abstract][Full Text] [Related]
35. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Aksentijevich I; Nowak M; Mallah M; Chae JJ; Watford WT; Hofmann SR; Stein L; Russo R; Goldsmith D; Dent P; Rosenberg HF; Austin F; Remmers EF; Balow JE; Rosenzweig S; Komarow H; Shoham NG; Wood G; Jones J; Mangra N; Carrero H; Adams BS; Moore TL; Schikler K; Hoffman H; Lovell DJ; Lipnick R; Barron K; O'Shea JJ; Kastner DL; Goldbach-Mansky R Arthritis Rheum; 2002 Dec; 46(12):3340-8. PubMed ID: 12483741 [TBL] [Abstract][Full Text] [Related]
36. Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. Cantarini L; Lucherini OM; Frediani B; Brizi MG; Bartolomei B; Cimaz R; Galeazzi M; Rigante D Int J Immunopathol Pharmacol; 2011; 24(4):827-36. PubMed ID: 22230390 [TBL] [Abstract][Full Text] [Related]
37. NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. Kuemmerle-Deschner JB; Lohse P; Koetter I; Dannecker GE; Reess F; Ummenhofer K; Koch S; Tzaribachev N; Bialkowski A; Benseler SM Arthritis Res Ther; 2011; 13(6):R196. PubMed ID: 22146561 [TBL] [Abstract][Full Text] [Related]
38. Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene. Iida Y; Wakiguchi H; Okazaki F; Nakamura T; Yasudo H; Kubo M; Sugahara K; Yamashita H; Suehiro Y; Okayama N; Hashimoto K; Iwamoto N; Kawakami A; Aoki Y; Takada H; Ohga S; Hasegawa S Clin Rheumatol; 2019 Mar; 38(3):943-948. PubMed ID: 30338413 [TBL] [Abstract][Full Text] [Related]
39. Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. Naz Villalba E; Gomez de la Fuente E; Caro Gutierrez D; Pinedo Moraleda F; Yanguela Rodilla J; Mazagatos Angulo D; López Estebaranz JL Pediatr Dermatol; 2016 Sep; 33(5):e311-4. PubMed ID: 27435956 [TBL] [Abstract][Full Text] [Related]
40. Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature. Yokoi K; Minamiguchi S; Honda Y; Kobayashi M; Kobayashi S; Nishikomori R Pediatr Rheumatol Online J; 2021 May; 19(1):77. PubMed ID: 34059097 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]