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Cytotoxic T-Lymphocyte-Associated Protein 4 Deficiency Colitis Masked by Recurrent Cytomegalovirus Colitis
Roney Shibu1,2, Gabin Soosaipillai3, Sooraj Rajendran Pillai3
1Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
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.
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