Abstracts tagged "genetic disorders and phenotypes"

Abstract Number: 2855 • 2018 ACR/ARHP Annual Meeting
Expanding the Phenotype: New Variant in the IL1RN-Gene Associated with Late Onset and Atypical Presentation of Dira
Jasmin B. Kuemmerle-Deschner¹, Konstanze Hoertnagel², Susanne Schlipf³, Sandra Hansmann⁴, Toni Hospach⁵, Ilias Tsiflikas⁶, Xiao Liu⁷, Susanne Benseler⁸ and Alexander Weber⁷, ¹Department of Pediatrics, Division of Rheumatology, University Hospital Tuebingen, Germany, Tuebingen, Germany, ²Praxis für Humangenetik Tübingen,Tuebingen, Germany, Tuebingen, Germany, ³Kinderarztpraxis Dr. Lakner, Schwäbisch Gmünd, Germany, Schwäbisch Gmünd, Germany, ⁴Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany, Tuebingen, Germany, ⁵Pediatrics, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany, ⁶Division of Pediatric Radiology, Department of Radiology, University Hospital Tuebingen, Germany, Tuebingen, Germany, ⁷Department of Immunology, University of Tübingen, Tübingen, Germany, Tuebingen, Germany, ⁸Rheumatology, Department of Paediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada, Calgary, AB, Canada
Background/Purpose: Deficiency of the Interleukin-1 receptor antagonist (DIRA) is an autoinflammatory disease of infancy characterized by severe systemic inflammation with bone and skin involvement. This…

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