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 Ni določen © 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 0000-00-00 00:00:00 2020 0 Švica 0 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 0 0 0