Cytotoxic T-Lymphocyte-Associated Protein 4 Deficiency Colitis Masked by Recurrent Cytomegalovirus Colitis Successfully Treated With Vedolizumab.

Authors

Roney Shibu, Gabin Soosaipillai, Sooraj Rajendran Pillai, Waled Mohsen

Published in

ACG case reports journal. Volume 13. Issue 7. Pages e02225. Epub Jul 03, 2026.

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.

PMID:
42405297
Bibliographic data and abstract were imported from PubMed on 06 Jul 2026.

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