A rare case of Crohn’s ileitis in a patient with constitutional mismatch repair deficiency

Pavlos Kaimakliotis, Francis M Giardiello, Ogechukwu Eze, Brindusa Truta

Research output: Contribution to journalArticle


Constitutional mismatch repair deficiency (CMMRD), a variant of Lynch syndrome, is a rare disease characterized by café-au-lait spots, oligopolyposis, glioblastoma and lymphoma. A 24-year-old male, under surveillance for CMMRD, developed Crohn’s ileitis after total colectomy with end ileostomy for colorectal cancer and failed to respond to oral corticosteroids. The patient underwent induction and maintenance of remission with vedolizumab infusions. We report the first patient with CMMRD developing Crohn’s disease. The choice of immunosuppressive therapy in these patients is challenging and needs to be made according to their risk for malignancy.

Original languageEnglish (US)
Pages (from-to)370-372
Number of pages3
JournalAnnals of Gastroenterology
Issue number3
Publication statusPublished - 2017



  • Constitutional mismatch repair deficiency
  • Crohn’s disease
  • Familial cancer
  • Vedolizumab

ASJC Scopus subject areas

  • Gastroenterology

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