Cytotoxic T-Lymphocyte-Associated Protein 4 Deficiency Colitis Masked by Recurrent Cytomegalovirus Colitis Successfully Treated With Vedolizumab
Abstract
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) deficiency is a primary immunodeficiency syndrome caused by mutations in the CTLA-4 gene. Its heterogeneous presentation, often with multisystem involvement, can result in delayed diagnosis and treatment. CTLA-4 deficiency colitis (CDC) is endoscopically and histologically indistinguishable from inflammatory bowel disease and may be masked by a secondary process, underscoring the importance of genetic testing. We present a case of corticosteroid-refractory CDC in a frail, comorbid woman that was masked by recurrent cytomegalovirus colitis. Vedolizumab was commenced and steroid-free clinical remission was achieved after 5 months. There was no recurrence of colitis until vedolizumab was self-ceased after 12 months. CDC flared 7 months post vedolizumab cessation but due to patient preference, it was not recommenced.
Fields of Study & Subjects
Immunodeficiency and Autoimmune Disorders
Diabetes and associated disorders
T-cell and B-cell Immunology
Publication details
- Journal / source
- ACG Case Reports Journal
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Volume
- 13
- Issue
- 7
- Pages
- e02225–e02225
- Publication date
- 1 July 2026
- Language
- EN