APS-I早期确诊方法(附1例病例报道)
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[6]Kogawa K, Kudoh J, Nagafuchi S, et al. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations [J]. Clin Immunol,2002,103(3):277-283.
[7]Harris M, Kecha O, Deal C, et al. Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies [J]. Clin Endocrinol Metab,2003,88(10):4576-4585.
[8]Sato U, Horikawa R, Katsumata N, et al. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED [J]. Pediatr Endocrinol Metab,2004,17(6):917-921.
[9]Tawfik S, Azim MA, Peterson P, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation [J]. Horm Res, 2005,64(2):96-99.
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[11]Lintas C, Cappa M, Comparcola D, et al. An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (aire) [J]. Eur J Pediatr,2008,167(8):949-953 ......
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