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:

There can be diarrhea or dysentery as the first or main symptoms of inborn errors of immunity (IEIs). The cause of diarrhea and dysentery in this case was early-onset IBD. One of the symptoms of IEIs such as caspase-8 deficiency is early-onset of IBD. Patients with early-onset had normal T cell count and low or normal immunoglobulin levels with insufficient immune response.

• Authors: Narges Bazgir, Azin Tahvildari, Zahra Chavoshzade, Mahnaz Jamee, Zahra Golchehre, Abdollah Karimi, Naghi Dara, Mazdak Fallahi, Mohammad Keramatipour, Arezou Karamzade, Samin Sharafian
• Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology (Allergy Asthma Clin Immunol) Vol. 19 Issue 1 Pg. 29 (Apr 10 2023) ISSN: 1710-1484 [Print] England
• PMID: 37038193 (Publication Type: Journal Article)
• Copyright: © 2023. The Author(s).