Recognizing gastrointestinal and hepatic manifestations of primary immunodeficiency diseases

Research output: Contribution to journalReview articlepeer-review


Given the complex immune function of the gastrointestinal (GI) tract, it is not surprising that many children with primary immunodeficiencies present with GI tract manifestations. Although many immunodeficiency disorders present with overt evidence of immune dysregulation, a few can present in older children with more subtle signs and symptoms. Such children may present first to a gastroenterologist with common symptoms, including malabsorption, diarrhea, hepatomegaly, or inflammatory bowel disease, which may actually be a manifestation of their underlying immune disorder. A thorough clinical history in combination with a careful review of histology from biopsies may reveal clues that one is dealing with a disease entity outside the norm and may prompt additional laboratory studies beyond the usual set of screening laboratory tests. Once the true underlying diagnosis is revealed, more appropriate therapy can be initiated. Additionally, more appropriate anticipatory guidance regarding the expected disease course, response to medications, and any additional risks that therapy may entail can be provided to the family.

Original languageEnglish (US)
Pages (from-to)548-555
Number of pages8
JournalJournal of pediatric gastroenterology and nutrition
Issue number5
StatePublished - Nov 1 2010


  • gastrointestinal
  • hepatic
  • histology
  • immunodeficiency
  • pediatric

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology


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