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

AbstractBACKGROUND:
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.
AuthorsKarin R Engelhardt, Neil Shah, Intan Faizura-Yeop, Dilara F Kocacik Uygun, Natalie Frede, Aleixo M Muise, Eyal Shteyer, Serkan Filiz, Ronnie Chee, Mamoun Elawad, Britta Hartmann, Peter D Arkwright, Christopher Dvorak, Christoph Klein, Jennifer M Puck, Bodo Grimbacher, Erik-Oliver Glocker
JournalThe Journal of allergy and clinical immunology (J Allergy Clin Immunol) Vol. 131 Issue 3 Pg. 825-30 (Mar 2013) ISSN: 1097-6825 [Electronic] United States
PMID23158016 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
Chemical References
  • Receptors, Interleukin-10
  • Interleukin-10
Topics
  • Adult
  • Child
  • Child, Preschool
  • Colitis (diagnosis, etiology, genetics, therapy)
  • Female
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Immunologic Deficiency Syndromes (complications, diagnosis, genetics, therapy)
  • Infant
  • Infant, Newborn
  • Interleukin-10 (deficiency)
  • Male
  • Mutation
  • Receptors, Interleukin-10 (deficiency)

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