A Rare Immunological Disease, Caspase 8 Deficiency: Case Report and Literature Review

Overview

Journal Allergy Asthma Clin Immunol

Specialty Allergy & Immunology

Date 2023 Apr 10

PMID 37038193

Authors

Narges Bazgir

Azin Tahvildari

Zahra Chavoshzade

Mahnaz Jamee

Zahra Golchehre

Abdollah Karimi

Naghi Dara

Mazdak Fallahi

Mohammad Keramatipour

Arezou Karamzade

Samin Sharafian

Affiliations

Soon will be listed here.

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.

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