Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency

• 영문명: Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
• 발행기관: 대한의학유전학회
• 저자명: Seung Hwan Oh
• 간행물 정보: 『대한의학유전학회지』제19권 제2호, 57~62쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2022.12.31

영문 초록

Systemic autoinflammatory diseases (SAIDs) are characterized by unprovoked inflammatory episodes such as recurrent/peri-odic fever, serositis, skin lesions, abdominal symptoms, arthritis/arthralgia, and central nervous system involvement. Genetic diagnosis of SAIDs has been challenging because disease manifestations overlap among themselves and with other immuno-logical disease categories, such as infection and autoimmune diseases. However, the advent of next-generation sequencing (NGS) technologies and expanding knowledge about the innate immunity and inflammation have made the routine genetic diagnosis of SAIDs possible. Here, we review the recurrent/periodic fevers, other recently identified autoinflammatory dis-eases, and type I interferonopathies, and discuss the clinical usefulness of NGS targeted sequencing for SAIDs, and recent advance of understandings for this heterogeneous disease group as for underlying primary immunodeficiency.

목차

Introduction

Genetic Testing for The Expanding List of SAID-Associated Genes

Type I Interferonopathy and Innate Immune System

Adoption of Targeted NGS Panel Sequencing for SAIDs

Conclusion

Acknowledgements

References

키워드

Inflammation Innate immunity Genetic testing