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Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations.

Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, Roberts PF, Woo P, Grattan CE, Hawkins PN.

Arch Dermatol. 2006 Dec;142(12):1591-7.


Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.

Hawkins PN, Lachmann HJ, Aganna E, McDermott MF.

Arthritis Rheum. 2004 Feb;50(2):607-12.


Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra.

Gerard S, le Goff B, Maugars Y, Berthelot JM, Malard O.

Joint Bone Spine. 2007 Dec;74(6):659. No abstract available.


Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

Aróstegui JI, Aldea A, Modesto C, Rua MJ, Argüelles F, González-Enseñat MA, Ramos E, Rius J, Plaza S, Vives J, Yagüe J.

Arthritis Rheum. 2004 Dec;50(12):4045-50.


Cryopyrin-associated periodic syndromes and autoinflammation.

Shinkai K, McCalmont TH, Leslie KS.

Clin Exp Dermatol. 2008 Jan;33(1):1-9. Review.


Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL.

N Engl J Med. 2006 Aug 10;355(6):581-92.


New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.

Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, Letellier E, Grateau G, Morin AS, Fain O.

Rheumatology (Oxford). 2008 Mar;47(3):309-10. doi: 10.1093/rheumatology/kem318.


Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, Lachmann HJ, Bybee A, Gaudet R, Woo P, Feighery C, Cotter FE, Thome M, Hitman GA, Tschopp J, McDermott MF.

Arthritis Rheum. 2002 Sep;46(9):2445-52. Erratum in: Arthritis Rheum 2002 Dec;46(12):3398.


A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

Dalgic B, Egritas O, Sari S, Cuisset L.

Pediatr Nephrol. 2007 Sep;22(9):1391-4.


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. doi: 10.1186/ar3526.


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.


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 Sep-Oct;37(5):385-9. doi: 10.1080/03009740801978889.


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. doi: 10.1002/art.25057.


Muckle-Wells treatment with anakinra.

Eungdamrong J, Boyd KP, Meehan SA, Latkowski JA.

Dermatol Online J. 2013 Dec 16;19(12):20720.


[Clinical features of CINCA syndrome: effects and problems of IL-1Ra].

Sugiura H, Matsubayashi T.

Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):108-13. Japanese.


Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, Benseler SM.

Arthritis Rheum. 2011 Mar;63(3):840-9. doi: 10.1002/art.30149.


Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.

Boschan C, Witt O, Lohse P, Foeldvari I, Zappel H, Schweigerer L.

Am J Med Genet A. 2006 Apr 15;140(8):883-6.


Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases?

Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Söderkvist P, Särndahl E.

Arthritis Rheum. 2008 Mar;58(3):888-94. doi: 10.1002/art.23286.


Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome.

O'Connell SM, O'Regan GM, Bolger T, Hoffman HM, Cant A, Irvine AD, Watson RM.

Pediatr Dermatol. 2007 Jan-Feb;24(1):85-9.


Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement.

Kolivras A, Theunis A, Ferster A, Lipsker D, Sass U, Dussart A, André J.

J Cutan Pathol. 2011 Feb;38(2):202-8. doi: 10.1111/j.1600-0560.2010.01638.x.


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