دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: A rare immunological disease, caspase 8 deficiency: case report and literature review
المؤلفون: Narges Bazgir, Azin Tahvildari, Zahra Chavoshzade, Mahnaz Jamee, Zahra Golchehre, Abdollah Karimi, Naghi Dara, Mazdak Fallahi, Mohammad Keramatipour, Arezou Karamzade, Samin Sharafian
المصدر: Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-9 (2023)
بيانات النشر: BMC, 2023.
سنة النشر: 2023
المجموعة: LCC:Immunologic diseases. Allergy
مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1710-1492
Relation: https://doaj.org/toc/1710-1492
DOI: 10.1186/s13223-023-00778-3
URL الوصول: https://doaj.org/article/b99cfc8fa7444e2abde07c24701f0048
رقم الأكسشن: edsdoj.b99cfc8fa7444e2abde07c24701f0048
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17101492
DOI:10.1186/s13223-023-00778-3