The treatment of inflammatory bowel disease in patients with selected primary immunodeficiencies

Dror S. Shouval, Matthew Kowalik, Scott B. Snapper

Research output: Contribution to journalArticlepeer-review


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 aminority of cases, the disease develops early in life, and in some of these young patients, amonogenic 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.

Original languageEnglish
Pages (from-to)579-588
Number of pages10
JournalJournal of Clinical Immunology
Issue number5
StatePublished - Jul 2018


  • CGD
  • CTLA-4
  • IBD
  • IL-10
  • LRBA
  • XIAP


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