Journal
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Volume 131, Issue 3, Pages 825-+Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2012.09.025
Keywords
IL-10; IL-10 receptor; enterocolitis; mutations; colectomy; hematopoietic stem cell transplantation
Categories
Funding
- NEOPICS
- Canadian National Early Onset Pediatric Cohort Study
- European Commission Marie Curie Excellence program [MEXT-CT-2006-042316]
- EURO-PADNet
- Marie Curie Actions CIG [294253]
- USA National Institutes of Health/NCRR UCSF-CTSI [UL1 RR024131]
- UCSF Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies
- German Federal Ministry of Education and Research [BMBF 01 EO0803]
- Care-for-Rare Foundation
- National Institutes of Health
- European Community 6th Programme
- European Community 7th Programme
- Marie Curie Excellence grant
- German Federal Ministry of Education and Research
- European Commission/Marie-Curie Actions
- Great Ormond Street Hospital Childrens Charity [V1204] Funding Source: researchfish
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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 a 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. (J Allergy Clin Immunol 2013; 131:825-30.)
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