학술논문
Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
이용수 0
- 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
- 발행일자
- 2022.12.31
4,000원
구매일시로부터 72시간 이내에 다운로드 가능합니다.
이 학술논문 정보는 (주)교보문고와 각 발행기관 사이에 저작물 이용 계약이 체결된 것으로, 교보문고를 통해 제공되고 있습니다.
국문 초록
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
해당간행물 수록 논문
- Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
- The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
- Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
- Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
- Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
- Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
- The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
- Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
- SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
- Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
- Clinical application of prenatal chromosomal microarray
참고문헌
교보eBook 첫 방문을 환영 합니다!
신규가입 혜택 지급이 완료 되었습니다.
바로 사용 가능한 교보e캐시 1,000원 (유효기간 7일)
지금 바로 교보eBook의 다양한 콘텐츠를 이용해 보세요!