Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome-Reference-Cited by-同舟云学术

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome

Published:2018-03-01 Issue:9 Volume:131 Page:974-981
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Rowczenio Dorota M.¹,Pathak Shelly²³,Arostegui Juan I.⁴,Mensa-Vilaro Anna⁴,Omoyinmi Ebun⁵,Brogan Paul⁵,Lipsker Dan⁶⁷,Scambler Thomas²³,Owen Roger⁸,Trojer Hadija¹,Baginska Anna¹,Gillmore Julian D.¹,Wechalekar Ashutosh D.¹,Lane Thirusha¹,Williams Rene¹,Youngstein Taryn¹,Hawkins Philip N.¹,Savic Sinisa²³,Lachmann Helen J.¹

Affiliation:

1. National Amyloidosis Centre, University College London (UCL), London, United Kingdom;

2. Leeds Musculoskeletal Biomedical Research Centre, National Institute for Health Research, Leeds, United Kingdom;

3. Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom;

4. Department of Immunology, Hospital Clinic, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain;

5. Great Ormond Street Institute of Child Health (ICH), UCL, London, United Kingdom;

6. Faculty of Medicine, University of Strasbourg, Strasbourg, France;

7. Dermatological Clinic, The University Hospitals of Strasbourg, Strasbourg, France; and

8. Department of Haematology, St. James’s University Hospital, Leeds, United Kingdom

Abstract

Key PointsWe found no evidence of somatic NLRP3 mosaicism in the pathogenesis of Schnitzler syndrome. Pathogenic inflammasome activation is supported by increased ASC, IL-18, IL-6, and anakinra response.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/131/9/974/1406496/blood810366.pdf

Reference29 articles.

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4. Long-term follow-up of IgM monoclonal gammopathy of undetermined significance;Kyle;Blood,2003

5. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome;Hawkins;N Engl J Med,2003

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