A rare immunological disease, caspase 8 deficiency: case report and literature review.

ABSTRACT:

Background

Caspase-8 is a molecule in the FAS pathway that initiates apoptosis. One of the rarest autoimmune lymphoproliferative syndromes is caspase-8 deficiency. Immunodeficiency, splenomegaly, and lymphadenopathy are the common symptoms of this condition.

Case presentation

A two-year-old boy entered this study with a fever of unknown origin (FUO) and dysentery. Moreover, he suffered from failure to thrive and was allergic to the cow's milk protein. His fever and dysentery did not respond to antibiotic therapy. The colonoscopy revealed diffuse ulcerations regions in the sigmoid along with skipped areas, mimicking Crohn's disease aphthous lesions. He represented very early-onset inflammatory bowel disease (IBD) and was diagnosed with the caspase-8 deficiency.

Conclusion<

SUBMITTER: Bazgir N 

PROVIDER: S-EPMC10084589 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature