Author information

1 Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

2 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

3 Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.

4 VEO-IBD International Consortium, Boston, USA.

5 Harvard Medical School, Boston, MA, USA.

6 Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA. Scott.Snapper@childrens.harvard.edu.

7 VEO-IBD International Consortium, Boston, USA. Scott.Snapper@childrens.harvard.edu.

8 Harvard Medical School, Boston, MA, USA. Scott.Snapper@childrens.harvard.edu.

9 Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, Boston, MA, USA. Scott.Snapper@childrens.harvard.edu.

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.