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6. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. Aróstegui JI; Lopez Saldaña MD; Pascal M; Clemente D; Aymerich M; Balaguer F; Goel A; Fournier del Castillo C; Rius J; Plaza S; López Robledillo JC; Juan M; Ibañez M; Yagüe J Arthritis Rheum; 2010 Apr; 62(4):1158-66. PubMed ID: 20131270 [TBL] [Abstract][Full Text] [Related]
8. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Goldbach-Mansky R Curr Rheumatol Rep; 2011 Apr; 13(2):123-31. PubMed ID: 21538043 [TBL] [Abstract][Full Text] [Related]
9. Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. Kanariou M; Dracou C; Spanou K; Möller J; Rösen-Wolff A; Schuster V; Roesler J Klin Padiatr; 2009; 221(6):379-81. PubMed ID: 19890791 [TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Caroli F; Pontillo A; D'Osualdo A; Travan L; Ceccherini I; Crovella S; Alessio M; Stabile A; Gattorno M; Tommasini A; Martini A; Lepore L Rheumatology (Oxford); 2007 Mar; 46(3):473-8. PubMed ID: 16920754 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies. Hedrich CM; Fiebig B; Sallmann S; Bruck N; Hahn G; Roesler J; Roesen-Wolff A; Heubner G; Gahr M Scand J Rheumatol; 2008; 37(5):385-9. PubMed ID: 18609262 [TBL] [Abstract][Full Text] [Related]
14. [Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. Aboín-González S; Aldanondo-Fernández de la Mora I; García-Acebes CR; Carrillo-Gijón R; Harto-Castaño A; Jaén-Olasolo P Actas Dermosifiliogr; 2008; 99(6):481-4. PubMed ID: 18558058 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Neven B; Marvillet I; Terrada C; Ferster A; Boddaert N; Couloignier V; Pinto G; Pagnier A; Bodemer C; Bodaghi B; Tardieu M; Prieur AM; Quartier P Arthritis Rheum; 2010 Jan; 62(1):258-67. PubMed ID: 20039428 [TBL] [Abstract][Full Text] [Related]
17. Neonatal urticaria: Could it be CAPS? Cutts L; Parslew R; Eustace K Pediatr Dermatol; 2018 Nov; 35(6):e420-e421. PubMed ID: 30187963 [TBL] [Abstract][Full Text] [Related]
18. [Update in interleukin-1 inhibition]. de Boysson H Rev Med Interne; 2012 Apr; 33(4):235-7. PubMed ID: 22360831 [No Abstract] [Full Text] [Related]
19. Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra. Sabroe RA; Stokes CA; Parker LC; Higgins K; Prince LR; Sabroe I Clin Exp Dermatol; 2013 Dec; 38(8):874-7. PubMed ID: 23889084 [TBL] [Abstract][Full Text] [Related]
20. [Muckle-Wells syndrome caused by a new cryopyrin mutation: effective treatment with interleukin-1 antagonist]. Rameev VV; Kozlovskaia LV; Bogdanova MV Ter Arkh; 2012; 84(6):53-9. PubMed ID: 22997920 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]