Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism-Reference-Cited by-同舟云学术

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Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

Published:2016-11-28 Issue:12 Volume:68 Page:3035-3041
ISSN:2326-5191
Container-title:Arthritis & Rheumatology
language:en
Short-container-title:Arthritis & Rheumatology

Author:

Mensa-Vilaro Anna¹,Teresa Bosque María²,Magri Giuliana³,Honda Yoshitaka⁴,Martínez-Banaclocha Helios⁵,Casorran-Berges Marta²,Sintes Jordi³,González-Roca Eva¹,Ruiz-Ortiz Estibaliz¹,Heike Toshio⁴,Martínez-Garcia Juan J.⁵,Baroja-Mazo Alberto⁵,Cerutti Andrea⁶,Nishikomori Ryuta⁴,Yagüe Jordi¹,Pelegrín Pablo⁵,Delgado-Beltran Concha²,Aróstegui Juan I.¹

Affiliation:

1. Hospital Clínic de Barcelona; Barcelona Spain

2. Hospital Clínico Universitario Lozano Blesa; Zaragoza Spain

3. Institut Hospital del Mar d'Investigacions Mèdiques; Barcelona Spain

4. Kyoto University; Kyoto Japan

5. Hospital Clínico Universitario Virgen de la Arrixaca; Murcia Spain

6. Institut Hospital del Mar d'Investigacions Mèdiques and Catalan Institute for Research and Advanced Studies; Barcelona Spain

Funder

European Research Council

Instituto Salud Carlos III−FEDER (Río Hortega)

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Reference15 articles.

1. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever registry;Levy;Ann Rheum Dis,2015

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

3. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases;Aksentijevich;Arthritis Rheum,2002

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. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder;Agostini;Immunity,2004

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1. Mosaïcisme génétique dans les maladies auto-inflammatoires : revue de la littérature;La Revue de Médecine Interne;2024-05

2. Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases;The FEBS Journal;2024-03-12

3. Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases;Frontiers in Ophthalmology;2024-02-22

4. Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production;Nature Communications;2024-02-06

5. The discovery of NLRP3 and its function in cryopyrin‐associated periodic syndromes and innate immunity;Immunological Reviews;2023-12-25

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