RIDDLE syndrome ring finger protein 168 deficiency in a 9-month-old boy from Jazan, Saudi Arabia

Abstract

This study explores the intricate challenges of ring finger protein 168 (RNF168) deficiency, an uncommon genetic disorder characterized by immunodeficiency, radiation sensitivity, and diverse clinical traits. Presenting the case of a 9-month-old Saudi boy, our investigation emphasizes the critical importance of early diagnosis and intervention in managing this complex syndrome. Comparative analyses across global cases reveal substantial diversity in clinical features and genetic profiles, underscoring the need for ongoing research and international collaboration. Our findings significantly contribute to the understanding of RNF168 deficiency, guiding diagnostic and management strategies for improved patient outcomes. While acknowledging study limitations, particularly in comprehensive assessments, this research highlights the necessity for continued exploration to unravel the genetic and clinical intricacies of RNF168 deficiency. The insights gained from this study hold the potential for advancing knowledge and refining approaches to diagnose and manage this rare disorder effectively.