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지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제24권 제4호
- 발행연도
- 2019.1
- 수록면
- 248 - 252 (5page)
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초록· 키워드
오류제보하기
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).
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참고문헌 (20)
참고문헌 신청
Finnish-German APECED Consortium / 1997 / An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains / Nat Genet 17:399~403
Eisenbarth GS / 2004 / Autoimmune polyendocrine syndromes / N Engl J Med 350:2068~2079
Anderson MS / 2005 / The cellular mechanism of Aire control of T cell tolerance / Immunity 23:227~239
Liston A / 2003 / Aire regulates negative selection of organ-specific T cells / Nat Immunol 4:350~354
Perheentupa J / 2006 / Autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy / J Clin Endocrinol Metab 91:2843~2850
Eisenbarth GS / 2004 / Autoimmune polyendocrine syndromes / N Engl J Med 350:2068~2079
Anderson MS / 2005 / The cellular mechanism of Aire control of T cell tolerance / Immunity 23:227~239
Liston A / 2003 / Aire regulates negative selection of organ-specific T cells / Nat Immunol 4:350~354
Perheentupa J / 2006 / Autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy / J Clin Endocrinol Metab 91:2843~2850
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