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BTNL2 gene variant and sarcoidosis
  1. Y Li1,
  2. B Wollnik1,
  3. S Pabst2,
  4. M Lennarz2,
  5. E Rohmann3,
  6. A Gillissen4,
  7. H Vetter5,
  8. C Grohé5
  1. 1Center for Molecular Medicine Cologne (CMMC) and Institute of Human Genetics, University of Cologne, Germany
  2. 2Medizinische Universitäts-Poliklinik, Rheinische-Friedrich-Wilhelms Universität Bonn, Germany
  3. 3Center for Molecular Medicine Cologne (CMMC) and Institute of Human Genetics, University of Cologne, Germany
  4. 4Städtisches Klinikum St Georg, Leipzig, Germany
  5. 5Medizinische Universitäts-Poliklinik, Rheinische-Friedrich-Wilhelms Universität Bonn, Germany
  1. Correspondence to:
    Professor Dr med C Grohé
    Medizinische Universitäts-Poliklinik, Wilhelmstr, 35-37, D-53111 Bonn, Germany; c.grohe{at}uni-bonn.de

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Sarcoidosis is an inflammatory granulomatous disorder that primarily affects the lungs and lymph nodes. Other organs such as the brain, eyes, heart, and skin can also be affected. The disease is characterised by non-caseating granulomas and an exaggerated cellular immune response caused by increased inflammatory activity.1 The course of the disease is acute and mild in approximately 20% of all patients. In most patients a chronic stage develops which can lead to lung fibrosis. Although the exact pathogenesis of sarcoidosis remains unclear, familial clustering of the disease and the increased risk of relatives to develop sarcoidosis suggest that there might be a genetic predisposition to develop the disease.2

A significant association was recently reported in Germany between sarcoidosis and a frequent single nucleotide polymorphism (SNP) in the BTNL2 gene, …

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