Phenotype–Genotype Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS): Description of a Rare Non-Exon 3 and a Novel CIAS1 Missense Mutation-Reference-Cited by-同舟云学术

Phenotype–Genotype Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS): Description of a Rare Non-Exon 3 and a Novel CIAS1 Missense Mutation

Published:2007-12-15 Issue:2 Volume:28 Page:134-138
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Jesus Adriana A.,Silva Clovis A.,Segundo Gesmar R.,Aksentijevich Ivona,Fujihira Erika,Watanabe Mônica,Carneiro-Sampaio Magda,Duarte Alberto J. S.,Oliveira João B.

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-007-9150-7.pdf

Reference13 articles.

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3. Masters SL, Lobito AA, Chae J, Kastner DL. Recent advances in the molecular pathogenesis of hereditary recurrent fevers. Curr Opin Allergy Clin Immunol 2006;6:428–33.

4. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273–85.

5. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR et al. 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. Arthritis Rheum 2002;46:3340–8.

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