Literature DB >> 17513575

Cryopyrin-associated autoinflammatory syndrome: a new mutation.

Andrew Zeft, John F Bohnsack.   

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Year:  2007        PMID： 17513575      PMCID： PMC1954656          DOI： 10.1136/ard.2006.064899

Source DB:  PubMed          Journal:  Ann Rheum Dis        ISSN： 0003-4967            Impact factor:   19.103


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  9 in total

1.  New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Authors:  Catherine Dodé; Nathalie Le Dû; Laurence Cuisset; Frank Letourneur; Jean-Marie Berthelot; Gérard Vaudour; Alain Meyrier; Richard A Watts; David G I Scott; Anne Nicholls; Brigitte Granel; Camille Frances; François Garcier; Patrick Edery; Serge Boulinguez; Jean-Paul Domergues; Marc Delpech; Gilles Grateau
Journal:  Am J Hum Genet       Date:  2002-04-25       Impact factor: 11.025

2.  A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents.

Authors:  Tomoyo Matsubara; Masanari Hasegawa; Masahiro Shiraishi; Hal M Hoffman; Takashi Ichiyama; Takeo Tanaka; Haruo Ueda; Tokuhiro Ishihara; Susumu Furukawa
Journal:  Arthritis Rheum       Date:  2006-07

3.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Authors:  H M Hoffman; J L Mueller; D H Broide; A A Wanderer; R D Kolodner
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

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

Authors:  Juan I Aróstegui; Anna Aldea; Consuelo Modesto; Maria Jesús Rua; Federico Argüelles; Maria Antonia González-Enseñat; Eduardo Ramos; Josefa Rius; Susana Plaza; Jordi Vives; Jordi Yagüe
Journal:  Arthritis Rheum       Date:  2004-12

Review 5.  The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.

Authors:  Keith M Hull; Nitza Shoham; Jae Jin Chae; Ivona Aksentijevich; Daniel L Kastner
Journal:  Curr Opin Rheumatol       Date:  2003-01       Impact factor: 5.006

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

Authors:  Philip N Hawkins; Helen J Lachmann; Ebun Aganna; Michael F McDermott
Journal:  Arthritis Rheum       Date:  2004-02

7.  Infevers: an evolving mutation database for auto-inflammatory syndromes.

Authors:  Isabelle Touitou; Suzanne Lesage; Michael McDermott; Laurence Cuisset; Hal Hoffman; Catherine Dode; Nitza Shoham; Ebun Aganna; Jean-Pierre Hugot; Carol Wise; Hans Waterham; Denis Pugnere; Jacques Demaille; Cyril Sarrauste de Menthiere
Journal:  Hum Mutat       Date:  2004-09       Impact factor: 4.878

8.  Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist.

Authors:  Hal M Hoffman; Sanna Rosengren; David L Boyle; Jae Y Cho; Jyothi Nayar; James L Mueller; Justin P Anderson; Alan A Wanderer; Gary S Firestein
Journal:  Lancet       Date:  2004 Nov 13-19       Impact factor: 79.321

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

Authors:  Raphaela Goldbach-Mansky; Natalie J Dailey; Scott W Canna; Ana Gelabert; Janet Jones; Benjamin I Rubin; H Jeffrey Kim; Carmen Brewer; Christopher Zalewski; Edythe Wiggs; Suvimol Hill; Maria L Turner; Barbara I Karp; Ivona Aksentijevich; Frank Pucino; Scott R Penzak; Margje H Haverkamp; Leonard Stein; Barbara S Adams; Terry L Moore; Robert C Fuhlbrigge; Bracha Shaham; James N Jarvis; Kathleen O'Neil; Richard K Vehe; Laurie O Beitz; Gregory Gardner; William P Hannan; Robert W Warren; William Horn; Joe L Cole; Scott M Paul; Philip N Hawkins; Tuyet Hang Pham; Christopher Snyder; Robert A Wesley; Steven C Hoffmann; Steven M Holland; John A Butman; Daniel L Kastner
Journal:  N Engl J Med       Date:  2006-08-10       Impact factor: 91.245
  9 in total
  3 in total

Review 1.  Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors:  Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2015-01-31       Impact factor: 7.486

Review 2.  Targeting the NLRP3 inflammasome in chronic inflammatory diseases: current perspectives.

Authors:  Ema Ozaki; Matthew Campbell; Sarah L Doyle
Journal:  J Inflamm Res       Date:  2015-01-16

3.  Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Authors:  Jenny Mae Samson; Dinoop Ravindran Menon; Prasanna K Vaddi; Nazanin Kalani Williams; Joanne Domenico; Zili Zhai; Donald S Backos; Mayumi Fujita
Journal:  Front Immunol       Date:  2020-11-19       Impact factor: 7.561
  3 in total

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