A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde-Reference-Cited by-同舟云学术

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde

Published:2010-01-28 Issue:4 Volume:62 Page:1158-1166
ISSN:0004-3591
Container-title:Arthritis & Rheumatism
language:en
Short-container-title:Arthritis & Rheumatism

Author:

Aróstegui Juan I.,Lopez Saldaña Ma Dolores,Pascal Mariona,Clemente Daniel,Aymerich Marta,Balaguer Francesc,Goel Ajay,Fournier del Castillo Concepción,Rius Josefa,Plaza Susana,López Robledillo Juan Carlos,Juan Manel,Ibañez Mercedes,Yagüe Jordi

Publisher

Wiley

Subject

Pharmacology (medical),Immunology,Rheumatology,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/art.27342/fullpdf

Reference31 articles.

1. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease;Masters;Annu Rev Immunol,2009

2. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model;Aksentijevich;Arthritis Rheum,2007

3. Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome;Hoffman;Nat Genet,2001

4. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes;Feldman;Am J Hum Genet,2002

5. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID);Aksentijevich;Arthritis Rheum,2002

Cited by 70 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ginseng polysaccharide promotes the apoptosis of colon cancer cells via activating the NLRP3 inflammasome;Immunopharmacology and Immunotoxicology;2024-09

2. Inborn errors of immunity: an expanding universe of disease and genetic architecture;Nature Reviews Genetics;2023-10-20

3. Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives;Seminars in Immunology;2023-05

4. Unmet Medical Needs in Chronic, Non-communicable Inflammatory Skin Diseases;Frontiers in Medicine;2022-06-09

5. Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond;Rheumatology;2021-12-09