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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.
ACG Case Reports Journal
|July 6, 2026
Summary
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) deficiency causes immune problems, and its colitis can mimic inflammatory bowel disease. Genetic testing is crucial for diagnosing this condition, which can be effectively treated with vedolizumab.
Area of Science:
- Immunology
- Genetics
- Gastroenterology
Background:
- Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) deficiency is a primary immunodeficiency resulting from CTLA-4 gene mutations.
- The condition presents heterogeneously with multisystem involvement, often leading to diagnostic delays.
- CTLA-4 deficiency colitis (CDC) is clinically and histologically similar to inflammatory bowel disease (IBD) and can be obscured by secondary infections.
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