Turk J Immunol. 2024; 12(1): 17-36 | DOI: 10.4274/tji.galenos.2023.09327

Immunologists’ Perspectives on Monogenic Inflammatory Bowel Diseases

Maryiam Jama Ali Osman¹, Emine Selva Aydoðdu³, Rafah Mackeh², Ahmet Özen⁴, Bernice Lo^2
1Hamad Bin Khalifa University Faculty of Medicine, College of Health and Life Sciences, Doha, Qatar
²Research Branch, Sidra Medicine, Doha, Qatar
³Marmara University Faculty of Medicine, Ýstanbul, Turkey
⁴Marmara University Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Ýstanbul, Turkey
⁵Ýstanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Ýstanbul, Turkey
⁶The Iþýl Berat Barlan Center for Translational Medicine, Ýstanbul, Turkey

Inflammatory bowel diseases (IBD) encompass a group of chronic inflammatory disorders primarily impacting the gastrointestinal system, and they may also affect other organ systems. While common forms of IBD typically arise from multifactorial causes, there exists a subset of patients with single gene defects known as monogenic IBD (mIBD). Over 100 genes have been associated with mIBD, spanning various biological pathways which affect various tissues; the immune system is the most commonly involved, but more rarely, the intestinal epithelium is the primarily affected compartment. Timely diagnosis hinges on awareness and the application of contemporary molecular techniques. Due to the diverse range of causes, managing mIBD requires a multidisciplinary approach. Conventional treatments often fall short, necessitating a personalized strategy that considers the multifaceted nature of mIBD presentations and the diverse etiologic factors. In recent times, novel therapies have emerged, targeting specific causative genes or affected pathways. This discussion delves into the fundamental aspects of mIBD, with particular emphasis on recent breakthroughs in the field, encompassing newly identified gene defects and innovative management strategies.

Keywords: Inflammatory bowel diseases, monogenic defects, immune system, multidisciplinary approach, personalized medicine

---

CITE