Literature DB >> 17333269

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.

Hirokazu Kanegane1, Toshiko Itazawa, Megumu Saito, Ryuta Nishikomori, Teruhiko Makino, Tadamichi Shimizu, Yuichi Adachi, Tatsutoshi Nakahata, Toshio Miyawaki.   

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Year:  2007        PMID： 17333269     DOI： 10.1007/s00431-007-0451-x

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

Authors:  H M Hoffman; A A Wanderer; D H Broide
Journal:  J Allergy Clin Immunol       Date:  2001-10       Impact factor: 10.793

2.  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

3.  Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Authors:  Megumu Saito; Akihiro Fujisawa; Ryuta Nishikomori; Naotomo Kambe; Mami Nakata-Hizume; Momoko Yoshimoto; Katsuyuki Ohmori; Ikuo Okafuji; Takakazu Yoshioka; Takashi Kusunoki; Yoshiki Miyachi; Toshio Heike; Tatsutoshi Nakahata
Journal:  Arthritis Rheum       Date:  2005-11

4.  A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.

Authors:  Hidetoshi Takada; Koichi Kusuhara; Akihiko Nomura; Shouichi Ohga; Mikiko Hayashi; Masutaka Furue; Toshiro Hara
Journal:  Eur J Pediatr       Date:  2005-08-27       Impact factor: 3.183

5.  Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Authors:  Bénédicte Neven; Isabelle Callebaut; Anne-Marie Prieur; Jérôme Feldmann; Christine Bodemer; Loredana Lepore; Beata Derfalvi; Suata Benjaponpitak; Richard Vesely; Marie Jose Sauvain; Stefan Oertle; Roger Allen; Gareth Morgan; Arndt Borkhardt; Clare Hill; Janet Gardner-Medwin; Alain Fischer; Geneviève de Saint Basile
Journal:  Blood       Date:  2003-11-20       Impact factor: 22.113

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

Authors:  Ebun Aganna; Fabio Martinon; Philip N Hawkins; John B Ross; Daniel C Swan; David R Booth; Helen J Lachmann; Alison Bybee; Roxanne Gaudet; Patricia Woo; Conleth Feighery; Finbarr E Cotter; Margot Thome; Graham A Hitman; Jürg Tschopp; Michael F McDermott
Journal:  Arthritis Rheum       Date:  2002-09
  6 in total

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