In which primary immunodeficiency syndromes is colitis a manifestation?

Updated: Jan 04, 2019
  • Author: David A Piccoli, MD; Chief Editor: Carmen Cuffari, MD  more...
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Several primary immunodeficiency syndromes, including common variable immunodeficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome, have all been associated with an IBD-like clinical and histopathological presentation. Patients may present with clinical signs and symptoms indistinguishable from patients with IBD, including chronic abdominal pain, diarrhea, and colitis-like symptoms. Indeed, extraintestinal manifestations such as failure to thrive, developmental delay and perianal diseases are common presenting complaints.

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