Literature DB >> 17684747

A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.

Zubeyde Gunduz1, Ismail Dursun, Juan I Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M Poyrazoglu, Metin Kaya Gurgoze, Ali Yikilmaz.   

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Year:  2007        PMID： 17684747     DOI： 10.1007/s00296-007-0432-4

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN： 0172-8172            Impact factor:   2.631


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  14 in total

Review 1.  Hereditary periodic fever.

Authors:  J P Drenth; J W van der Meer
Journal:  N Engl J Med       Date:  2001-12-13       Impact factor: 91.245

2.  Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.

Authors:  Philip N Hawkins; Helen J Lachmann; Michael F McDermott
Journal:  N Engl J Med       Date:  2003-06-19       Impact factor: 91.245

3.  Chronic infantile neurological cutaneous and articular syndrome--an early description.

Authors:  Richard Travers; Roger Allen
Journal:  J Rheumatol       Date:  2006-04       Impact factor: 4.666

4.  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.

Authors:  Ivona Aksentijevich; Miroslawa Nowak; Mustapha Mallah; Jae Jin Chae; Wendy T Watford; Sigrun R Hofmann; Leonard Stein; Ricardo Russo; Donald Goldsmith; Peter Dent; Helene F Rosenberg; Frances Austin; Elaine F Remmers; James E Balow; Sergio Rosenzweig; Hirsh Komarow; Nitza G Shoham; Geryl Wood; Janet Jones; Nadira Mangra; Hector Carrero; Barbara S Adams; Terry L Moore; Kenneth Schikler; Hal Hoffman; Daniel J Lovell; Robert Lipnick; Karyl Barron; John J O'Shea; Daniel L Kastner; Raphaela Goldbach-Mansky
Journal:  Arthritis Rheum       Date:  2002-12

5.  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

6.  Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Authors:  Jérôme Feldmann; Anne-Marie Prieur; Pierre Quartier; Patrick Berquin; Stephanie Certain; Elisabetta Cortis; Dominique Teillac-Hamel; Alain Fischer; Genevieve de Saint Basile
Journal:  Am J Hum Genet       Date:  2002-05-24       Impact factor: 11.025

7.  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

8.  Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome.

Authors:  G Federico; D Rigante; A L Pugliese; O Ranno; S Catania; A Stabile
Journal:  Scand J Rheumatol       Date:  2003       Impact factor: 3.641

9.  NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.

Authors:  Laetitia Agostini; Fabio Martinon; Kimberly Burns; Michael F McDermott; Philip N Hawkins; Jürg Tschopp
Journal:  Immunity       Date:  2004-03       Impact factor: 31.745

10.  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
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  1 in total

1.  Critical role for mast cells in interleukin-1β-driven skin inflammation associated with an activating mutation in the nlrp3 protein.

Authors:  Yuumi Nakamura; Luigi Franchi; Naotomo Kambe; Guangxun Meng; Warren Strober; Gabriel Núñez
Journal:  Immunity       Date:  2012-07-19       Impact factor: 31.745
  1 in total

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