Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a prototypic monogenic autoimmune disorder caused by AIRE deficiency-mediated impaired central immune tolerance. Although multiple endocrine and non-endocrine tissues are affected in APECED, the colon is an uncommon target of autoimmune attack. Mycophenolate is a potent immunomodulatory medication that is used to treat autoimmune manifestations in patients with APECED and other autoimmune diseases.
Methods: We reviewed the clinical, laboratory, genetic, histological, and treatment data of mycophenolate-induced colitis in our cohort of 104 APECED patients.
Discussion: Among 10 mycophenolate-treated APECED patients, four (40%) developed reversible biopsy-proven mycophenolate-induced colitis characterized by an inflammatory bowel disease-like and/or graft-versus-host disease-like histological pattern. Mycophenolate-induced colitis appears to be a common complication in patients with APECED for which clinicians should maintain a high index of suspicion.
Keywords: AIRE; APECED; APS-1; colitis; mycophenolate.