IPEX syndrome diagnosed in the neonatal period due to severe enteritis

• 발행기관: 조선대학교 의학연구원
• 저자명: Ji Ye Ahn Ga Hee Kim Min Seon Choi
• 간행물 정보: 『Medical Biological Science and Engineering』제8권 제1호, 45~49쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2024.12.31

국문 초록

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.

목차

INTRODUCTION

CASE REPORT

DISCUSSION

REFERENCES

키워드

Genes X-linked Infant Newborn Diarrhea