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Sjögren’s syndrome (SS) is characterised by B cell abnormalities and immune-mediated destruction of exocrine glands, primarily the salivary and lacrimal glands.1 2 Among the reported genetic polymorphisms associated with primary SS (pSS), the FAM167A-BLK locus distinguishes itself as an interesting candidate for further analysis based on the strong expression quantitative locus effect of pSS-associated polymorphisms on FAM167A (member A of the Family with sequence similarity 167), contrasted with only moderate or no effect on BLK.3 4 Little is known about the FAM167A gene and its relevance to rheumatic disease pathogenesis. We recently explored FAM167A and its encoded protein Disordered autoimmunity-1 (DIORA-1),4 and reported that DIORA-1 is conserved in vertebrates, has an intracellular, cytoplasmic localisation and in mice is predominantly expressed in lung and spleen—two organs with a high content of immune cells. In the present study, we investigated the expression of DIORA-1 in human immune cells and in salivary glands of patients with pSS, and assessed DIORA-1 expression in relation to pSS clinical manifestations.
Notably, we observed expression of DIORA-1 in CD19+ B cells, but little or no expression in monocytes or T cells (figure 1A). DIORA-1 expression in CD19+ B cells was similar in patients with pSS and healthy donors (figure 1B). To further define the expression pattern in B cells, we analysed DIORA-1 expression in cell lines representing discrete …
Footnotes
LAA and LM contributed equally.
Handling editor Josef S Smolen
Contributors LAA, LarM, SB and MWH conceived the study. MK recruited patients and recorded clinical data. LAA, LarM, LauM, AB, GET, MI, JIRS and SB performed the experiments, analysed the data and generated figures and table with input from KS, AE and MWH. LAA, LarM and MWH wrote the first version of the manuscript, and all authors participated in the editing until its final version.
Funding This study was funded by Vetenskapsrådet, Cancerfonden, Hjärt-Lungfonden, Stockholms Läns Landsting, Karolinska Institutet, Reumatikerförbundet, Norges Forskningsråd, Stiftelsen Konung Gustaf V:s 80-årsfond.
Competing interests None declared.
Patient consent Obtained.
Ethics approval The Regional Ethical Committe Stockholm.
Provenance and peer review Not commissioned; externally peer reviewed.