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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 1 - 8 (8page)
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Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet's disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, with symptoms developing at an early age. Here, we report the first case of infantile familial HA20 in Korea, which mimics neonatal lupus erythematosus (NLE). A 2-month-old infant exhibited symptoms including recurrent fever, erythematous rashes, and oral ulcers, with elevated liver enzymes, and tested positive for several autoantibodies, similar to systemic lupus erythematosus (SLE); therefore, she was suspected to have NLE. However, six months after birth, symptoms and autoantibodies persisted. Then, we considered the possibility of other diseases that could cause early onset rashes and abnormal autoantibodies, including autoinflammatory syndrome, monogenic SLE, or complement deficiency, all of which are rare. The detailed family history revealed that her father had recurrent symptoms, including oral and genital ulcers, knee arthralgia, abdominal pain, and diarrhea. These Behcet-like symptoms last for many years since he was a teenager, and he takes medications irregularly only when those are severe, but doesn't want the full-scale treatment. Whole- exome sequencing was conducted to identify a possible genetic disorder, which manifested as pathogenic variant nonsense mutation in the TNFAIP3 gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.
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참고문헌 (16)
참고문헌 신청
Johnson AF / 2019 / Causes and effects of haploinsufficiency / Biol Rev Camb Philos Soc 94(5):1774~1785
Zhou Q / 2016 / Loss-of-function mutations in TNFAIP3leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease / Nat Genet 48(1):67~73
Aeschlimann FA / 2018 / Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement / Curr Opin Rheumatol 30(5):506~513
Li H / 2010 / Fast and accurate long-read alignment with Burrows-Wheeler transform / Bioinformatics 26(5):589~595
McKenna A / 2010 / The genome analysis toolkit : a MapReduce framework for analyzing next-generation DNA sequencing data / Genome Res 20(9):1297~1303
Zhou Q / 2016 / Loss-of-function mutations in TNFAIP3leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease / Nat Genet 48(1):67~73
Aeschlimann FA / 2018 / Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement / Curr Opin Rheumatol 30(5):506~513
Li H / 2010 / Fast and accurate long-read alignment with Burrows-Wheeler transform / Bioinformatics 26(5):589~595
McKenna A / 2010 / The genome analysis toolkit : a MapReduce framework for analyzing next-generation DNA sequencing data / Genome Res 20(9):1297~1303
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