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Clinical associations and expression pattern of the autoimmunity susceptibility factor DIORA-1 in patients with primary Sjögren’s syndrome
  1. Lara A Aqrawi1,2,3,
  2. Lara Mentlein1,
  3. Lauro Meneghel1,
  4. Albin Björk1,
  5. Gudny Ella Thorlacius1,
  6. Margarita Ivanchenko1,
  7. Jorge I Ramírez Sepúlveda1,
  8. Kathrine Skarstein2,4,
  9. Marika Kvarnström1,
  10. Susanna Brauner5,
  11. Alexander Espinosa1,
  12. Marie Wahren-Herlenius1
  1. 1 Unit of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
  2. 2 The Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway
  3. 3 Department of Oral Surgery and Oral Medicine, Institute of Clinical Odontology, University of Oslo, Oslo, Norway
  4. 4 Department of Pathology, Haukeland University Hospital, Bergen, Norway
  5. 5 Department of Clinical Neuroscience, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
  1. Correspondence to Professor Marie Wahren-Herlenius, Unit of Rheumatology, Department of Medicine, Karolinska Institute, Stockholm 171 76, Sweden; marie.wahren{at}ki.se

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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 …

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