Hematopoietic stem cell transplantation completely reversed colitis but not arthritis in IL-10Rα deficiency
Abstract
Mutations in IL-10R1, IL-10R2, and IL-10 have been identified in infants with severe colitis. The only possible hope for cure in these conditions is a hematopoietic stem cell transplantation (HSCT). We report here on a patient with IL-10R1 deficiency who suffered severe colitis and arthritis. She received a HSCT from a matched unrelated donor and her post-transplant course was uneventful. She has fully engrafted and her immune reconstitution was complete and robust. Although signs of colitis were completely resolved, arthritis was not reversed by HSCT. She continues to have joint swelling in the knees and inflammatory changes in the wrists. In conclusion, HSCT seems to have reversed colitis, but was insufficient to improve arthritis and possibly other autoimmune manifestations.
Statement of novelty: This report describes a successful HSCT in severe infantile colitis caused by mutations in IL-10R1. Yet, the arthritis remains active, suggesting that conditions such as severe rheumatic disorders in childhood may not be reversed by replacement of the hematopoietic system.
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Published In
LymphoSign Journal
Volume 1 • Number 2 • December 2014
Pages: 77 - 86
History
Received: 23 September 2014
Accepted: 23 September 2014
Accepted manuscript online: 2 October 2014
Version of record online: 2 October 2014
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KimVy H.D., BragerRae, UptonJulia, NganBo, NewellAndrea, RoifmanMaian, MuiseAleixo M., BenselerSusanne M., GrunebaumEyal, and RoifmanChaim M.. 2014. Hematopoietic stem cell transplantation completely reversed colitis but not arthritis in IL-10Rα deficiency. LymphoSign Journal.
1(2): 77-86. https://doi.org/10.14785/lpsn-2014-0018
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