Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency

Clin Gastroenterol Hepatol. 2013 Sep;11(9):1050-63. doi: 10.1016/j.cgh.2013.02.024. Epub 2013 Mar 13.


Gastrointestinal disorders such as chronic or acute diarrhea, malabsorption, abdominal pain, and inflammatory bowel diseases can indicate immune deficiency. The gastrointestinal tract is the largest lymphoid organ in the body, so it is not surprising that intestinal diseases are common among immunodeficient patients. Gastroenterologists therefore must be able to diagnose and treat patients with primary immunodeficiency. Immune-related gastrointestinal diseases can be classified as those that develop primarily via autoimmunity, infection, an inflammatory response, or malignancy. Immunodeficient and immunocompetent patients with gastrointestinal diseases present with similar symptoms. However, intestinal biopsy specimens from immunodeficient patients often have distinct histologic features, and these patients often fail to respond to conventional therapies. Therefore, early recognition of symptoms and referral to an immunologist for a basic immune evaluation is required to select appropriate treatments. Therapies for primary immunodeficiency comprise immunoglobulin replacement, antibiotics, and, in severe cases, bone marrow transplantation. Treatment of immunodeficient patients with concomitant gastrointestinal disease can be challenging, and therapy with immunomodulators often is required for severe disease. This review aims to guide gastroenterologists in the diagnosis and treatment of patients with primary immunodeficiency.

Keywords: 6-MP; AZA; CGD; CVID; FOXP3; GI; GVHD; Hypogammaglobulinemia; IBD; IL; IPEX; Ig; Immune System; Inflammatory Intestinal Disease; NLH; SCID; STAT; TNF; WAS; WASp; Wiskott–Aldrich syndrome; Wiskott–Aldrich syndrome protein; X-linked agammaglobulinemia; XLA; azathioprine; chronic granulomatous disease; common variable immunodeficiency; forkhead box P3; gastrointestinal; graft-versus-host disease; immune dysfunction, polyendocrinopathy, enteropathy, X-linked; immunoglobulin; inflammatory bowel disese; interleukin; mercaptopurine; nodular lymphoid hyperplasia; severe combined immunodeficiency; signal transducer and activator of transcription; tumor necrosis factor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Gastrointestinal Diseases / diagnosis*
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / immunology
  • Gastrointestinal Diseases / therapy*
  • Gastrointestinal Tract / immunology
  • Gastrointestinal Tract / pathology
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / diagnosis*

Supplementary concepts

  • Immune Deficiency Disease