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The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies

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Abstract

The gastrointestinal tract is heavily populated with innate and adaptive immune cells that have an active role in preservation of mucosal homeostasis and prevention of inflammation. Inflammatory bowel diseases are thought to result from dysregulated immune function that is influenced by genetic background, environmental triggers, and microbiome changes. While most inflammatory bowel disease patients present in adolescent years or adulthood, in a minority of cases, the disease develops early in life, and in some of these young patients, a monogenic disease causing intestinal inflammation can be identified. Many of these conditions result from mutations in immune-mediated genes and can present with or without concomitant recurrent infections. In this review, we will discuss the treatment of patients with selected primary immunodeficiencies and inflammatory bowel diseases. We will focus on five conditions resulting from mutations in IL10/IL10 receptor, NADPH oxidase complex, XIAP, LRBA, and CTLA-4.

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Acknowledgements

We would like to thank Jeff Goldsmith for his assistance in obtaining histological images of the patients.

Funding

D.S.S. is supported by the Israel Science Foundation, the Israel-US Binational Science Foundation, and Jeffery Modell Foundation grants. M.K. is supported by a NIH T32 grant (DK007477-34). S.B.S. is supported by NIH grants HL59561, DK034854, and AI50950; the Helmsley Charitable Trust; and the Wolpow Family Chair in IBD Treatment and Research.

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Correspondence to Scott B. Snapper.

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Shouval, D.S., Kowalik, M. & Snapper, S.B. The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies. J Clin Immunol 38, 579–588 (2018). https://doi.org/10.1007/s10875-018-0524-9

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