IPEX syndrome diagnosed in the neonatal period due to severe enteritis

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome is a rare X-linked genetic disorder characterized by widespread immune dysregulation. It primarily affects males and is clinically manifested by immune dysregulation, dysfunction of multiple endocrine organs, and enteropathy. The syndrome is caused by mutations in the FOXP3 gene, which encodes a critical protein involved in T-cell function and immune response regulation. Mutations in FOXP3 impair the development and function of regulatory T cells (Tregs), leading to autoimmune and inflammatory responses. Patients with IPEX syndrome may present with severe diarrhea, eczema, diabetes mellitus, thyroid dysfunction, and other autoimmune conditions. Early diagnosis and management are crucial due to the severity of the disease. This article presents a case diagnosed in the neonatal period with severe enteropathy and reviews the pathophysiology, genetic and immunological mechanisms underlying IPEX syndrome. Additionally, its diagnosis and treatment are discussed, highlighting the importance of timely intervention in improving patient outcomes.