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

J Clin Immunol. 2018 Jul;38(5):579-588. doi: 10.1007/s10875-018-0524-9. Epub 2018 Jun 29.


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.


Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / deficiency
  • Animals
  • CTLA-4 Antigen / genetics
  • Disease Management
  • Disease Susceptibility
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / metabolism
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / immunology*
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / etiology*
  • Inflammatory Bowel Diseases / therapy*
  • Interleukin-10 / deficiency
  • Lymphoproliferative Disorders / complications
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / metabolism
  • Mutation
  • NADPH Oxidases / genetics
  • Receptors, Interleukin-10 / deficiency


  • Adaptor Proteins, Signal Transducing
  • CTLA-4 Antigen
  • Receptors, Interleukin-10
  • Interleukin-10
  • NADPH Oxidases
  • LRBA protein, human

Supplementary concepts

  • Lymphoproliferative Syndrome, X-Linked, 2