Abstract | BACKGROUND: OBJECTIVES: 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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Authors | Karin 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 |
Journal | The 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 |
PMID | 23158016
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved. |
Chemical References |
- Receptors, Interleukin-10
- Interleukin-10
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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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