20.500.12556/DiRROS-13871
Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
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.
Schnitzler syndrome
B-lymhocytes
paraproteinemias
pararoteins
immunoglobulin M
autoinflammatory diseases
IgM
Schnitzlerjev sindrom
limfociti B
paraproteinemije
paraproteini
imunoglobulin M
avtovnetne bolezni
IgM
true
false
true
Frontiers Media SA
Angleški jezik
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© 2020 Pathak, Rowczenio, Lara-Reyna, Kacar, Owen, Doody, Krause, Lachmann, Doffinger, Newton and Savic.
Neznano
2021-04-08 14:32:03
2021-04-08 14:32:03
2022-08-19 03:37:18
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2020
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Švica
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Nasl. z nasl. zaslona;
Soavtor iz Slovenije: Mark Kačar;
Opis vira z dne 6. 4. 2021;
Št. članka: 569006;
str. 1-10
[Vol.] 11
3 Dec. 2020
0000-00-00
Zaloznikova
Objavljeno
NiDoloceno
0000-00-00
0000-00-00
0000-00-00
616-097
1664-3224
10.3389/fimmu.2020.569006
58382339
RAZ_Pathak_Shelly_i2020.pdf
RAZ_Pathak_Shelly_i2020.pdf
1
4C056291BB507B45C3EEF1A2227A4075
1c43da23d044227c5235d10eee34f14958af393c1b16f8d6a10a870ec15a47cb
83adcbc9-17b6-11ed-b6b8-001a4af901a5
https://dirros.openscience.si/Dokument.php?lang=slv&id=17138
https://www.frontiersin.org/articles/10.3389/fimmu.2020.569006/pdf
1
https://dirros.openscience.si/Dokument.php?lang=slv&id=16982
Univerzitetna klinika za pljučne bolezni in alergijo Golnik
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