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Title:Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
Authors:Pathak, Shelly (Author)
Rowczenio, Dorota (Author)
Lara-Reyna, Samuel (Author)
Kačar, Mark (Author)
Owen, Roger (Author)
Doody, Gina (Author)
Krause, Karoline (Author)
Lachmann, Helen J (Author)
Doffinger, Rainer (Author)
Newton, Darren (Author)
Savic, Sinisa (Author)
Tipology:1.01 - Original Scientific Article
Organisation:Logo UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
Abstract:The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has been extensively studied in this disease setting, the enigmatic paraproteinaemia and its potential consequential effects within SchS, has not previously been thoroughly addressed. Previous studies analyzing clonal B cell repertoires have largely focused on autoimmune disorders such as Systemic Lupus Erythematous (SLE) and hematological malignancies such as Chronic Lymphocytic Leukaemia (CLL), where B-cell clonality is central to disease pathology. The present study uses next-generation sequencing to provide detailed insight into aspects of B cell VDJ recombination and properties of the resulting immunoglobulin chains. An overview of IgH regional dynamics in 10 SchS patients, with a particular focus on CDR3 sequences and VDJ gene usage is reported, highlighting the presence of specific B cell expansions. Protein microarray detected a substantial proportion of autoreactive IgM to nuclear target proteins, though a single universal target was not identified. Together, these genetic and functional findings impart new understanding into this rare disorder.
Keywords:Schnitzler syndrome, B-lymhocytes, paraproteinemias, pararoteins, immunoglobulin M, autoinflammatory diseases, IgM
Year of publishing:2020
Publisher:Frontiers Media SA
COBISS_ID:58382339 Link is opened in a new window
ISSN on article:1664-3224
DOI:10.3389/fimmu.2020.569006 Link is opened in a new window
Note:Nasl. z nasl. zaslona; Soavtor iz Slovenije: Mark Kačar; Opis vira z dne 6. 4. 2021; Št. članka: 569006;
Files:.pdf PDF - Presentation file, download (1003,75 KB)
URL URL - Source URL, visit
Journal:Front. immunol.
Frontiers Research Foundation
Rights: © 2020 Pathak, Rowczenio, Lara-Reyna, Kacar, Owen, Doody, Krause, Lachmann, Doffinger, Newton and Savic.
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License:CC BY 4.0, Creative Commons Attribution 4.0 International
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:03.12.2020