Document detail
ID
oai:pubmedcentral.nih.gov:1008...
Topic
Case ReportAuthor
Bazgir, Narges Tahvildari, Azin Chavoshzade, Zahra Jamee, Mahnaz Golchehre, Zahra Karimi, Abdollah Dara, Naghi Fallahi, Mazdak Keramatipour, Mohammad Karamzade, Arezou Sharafian, SaminLangue
enEditor
BioMed Central
Category
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Year
2023
listing date
9/22/2023
Keywords
ibd early-onset deficiency caspase-8Abstract
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.
Bazgir, Narges,Tahvildari, Azin,Chavoshzade, Zahra,Jamee, Mahnaz,Golchehre, Zahra,Karimi, Abdollah,Dara, Naghi,Fallahi, Mazdak,Keramatipour, Mohammad,Karamzade, Arezou,Sharafian, Samin, 2023, A rare immunological disease, caspase 8 deficiency: case report and literature review, BioMed Central
