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Engelhardt, Karin R., PhD; Shah, Neil, MD; Faizura-Yeop, Intan, MD; Kocacik Uygun, Dilara F., MD; Frede, Natalie; Muise, Aleixo M., MD, PhD; Shteyer, Eyal, MD; Filiz, Serkan, MD; Chee, Ronnie, MD; Elawad, Mamoun, MD; Hartmann, Britta, PhD; Arkwright, Peter D., MD, PhD; Dvorak, Christopher, MD; Klein, Christoph, MD, PhD; Puck, Jennifer M., MD; Grimbacher, Bodo, MD; Glocker, Erik-Oliver, MD
Journal of allergy and clinical immunology, 03/2013, Volume: 131, Issue: 3Journal Article
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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