Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience (Q47129557)

8 January 2018

title

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience (English)

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8 January 2018

cryopyrin-associated periodic syndrome

main subject

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10

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8 January 2018

Alberto Baroja-Mazo

Alberto Baroja-Mazo

8

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Juan I Arostegui

Juan I Aróstegui

3

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Helen J Lachmann

Helen J Lachmann

14

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Anna Mensa-Vilaro

Anna Mensa-Vilaro

4

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author name string

Dorota M Rowczenio

1

1 reference

8 January 2018

Sónia Melo Gomes

2

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8 January 2018

Ebun Omoyinmi

5

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8 January 2018

Hadija Trojer

6

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8 January 2018

Anna Baginska

7

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8 January 2018

Pablo Pelegrin

9

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8 January 2018

Thirusha Lane

11

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8 January 2018

Rene Williams

12

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8 January 2018

Paul Brogan

13

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8 January 2018

Philip N Hawkins

15

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8 January 2018

publication date

31 October 2017

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8 January 2018

full work available at URL

http://eprints.whiterose.ac.uk/123422/

content deliverer

White Rose Research Online

object has role

published version

copyright license

Creative Commons Attribution

0 references

published in

Frontiers in Immunology

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8 January 2018

volume

8

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8 January 2018

page(s)

1410

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8 January 2018

Mosaicism in health and disease - clones picking up speed

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1 reference

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

23 May 2018

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Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

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Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

23 May 2018

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23 May 2018

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Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

23 May 2018

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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

23 May 2018

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Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

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Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing

23 May 2018

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High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

23 May 2018

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23 May 2018

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23 May 2018

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The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

23 May 2018

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

23 May 2018

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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

23 May 2018

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23 May 2018

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New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

23 May 2018

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23 May 2018

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23 May 2018

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Studies in vivo and in vitro of serum amyloid P component in normals and in a patient with AA amyloidosis

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29163488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29163488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29163488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FIMMU.2017.01410

1 reference

8 January 2018

Dimensions Publication ID

Altmetric DOI

10.3389/FIMMU.2017.01410

0 references

CORE ID

120230651

0 references

0 references

1 reference

8 January 2018

PubMed ID

29163488

1 reference

8 January 2018