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



Bazgir N1 ; Tahvildari A1 ; Chavoshzade Z2 ; Jamee M3, 4 ; Golchehre Z5 ; Karimi A3 ; Dara N6 ; Fallahi M2 ; Keramatipour M5, 7 ; Karamzade A5 ; Sharafian S2
Authors
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Authors Affiliations
  1. 1. Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Pediatric Infectious Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Pediatric Gastroenterology, Hepatology and Nutrition Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  7. 7. Watson Genetic Laboratory, North Kargar Street, Tehran, Iran

Source: Allergy# Asthma and Clinical Immunology Published:2023


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. © 2023, The Author(s).
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