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Title:Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
Authors:ID Pathak, Shelly (Author)
ID Rowczenio, Dorota (Author)
ID Lara-Reyna, Samuel (Author)
ID Kačar, Mark, Klinika Golnik (Author)
ID Owen, Roger (Author)
ID Doody, Gina (Author)
ID Krause, Karoline (Author)
ID Lachmann, Helen J (Author)
ID Doffinger, Rainer (Author)
ID Newton, Darren (Author)
ID Savic, Sinisa (Author)
Files:.pdf PDF - Presentation file, download (1003,75 KB)
MD5: 4C056291BB507B45C3EEF1A2227A4075
URL URL - Source URL, visit
Typology:1.01 - Original Scientific Article
Organization: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
Publication status:Published
Publication version:Version of Record
Place of publishing:Švica
Publisher:Frontiers Media SA
Year of publishing:2020
Number of pages:str. 1-10
Numbering:[Vol.] 11
PID:20.500.12556/DiRROS-13871 New window
ISSN on article:1664-3224
DOI:10.3389/fimmu.2020.569006 New window
COBISS.SI-ID:58382339 New window
Copyright: © 2020 Pathak, Rowczenio, Lara-Reyna, Kacar, Owen, Doody, Krause, Lachmann, Doffinger, Newton and Savic.
Note:Nasl. z nasl. zaslona; Soavtor iz Slovenije: Mark Kačar; Opis vira z dne 6. 4. 2021; Št. članka: 569006;
Publication date in DiRROS:08.04.2021
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Record is a part of a journal

Title:Frontiers in immunology
Shortened title:Front. immunol.
Publisher:Frontiers Research Foundation
COBISS.SI-ID:30774233 New window


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

Secondary language

Keywords:Schnitzlerjev sindrom, limfociti B, paraproteinemije, paraproteini, imunoglobulin M, avtovnetne bolezni, IgM