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Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

  • Author(s): Engelhardt, Karin R
  • Shah, Neil
  • Faizura-Yeop, Intan
  • Kocacik Uygun, Dilara F
  • Frede, Natalie
  • Muise, Aleixo M
  • Shteyer, Eyal
  • Filiz, Serkan
  • Chee, Ronnie
  • Elawad, Mamoun
  • Hartmann, Britta
  • Arkwright, Peter D
  • Dvorak, Christopher
  • Klein, Christoph
  • Puck, Jennifer M
  • Grimbacher, Bodo
  • Glocker, Erik-Oliver
  • et al.

Published Web Location

http://www.sciencedirect.com/science/article/pii/S0091674912015473
No data is associated with this publication.
Abstract

BACKGROUND: Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis. OBJECTIVES: We sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT). METHODS: We enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled. RESULTS: Of 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life. CONCLUSION: Because the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.

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