Article
Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
Clinical immunology (Orlando, Fla.) - 1 Jun 2002
Kogawa Kazuhiko, Kudoh Jun, Nagafuchi Seiho, Ohga Shouichi, Katsuta Hitoshi, Ishibashi Hiromi, Harada Mine, Hara Toshiro, Shimizu Nobuyoshi
Abstract excerpt
We herein report on two Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1). The brother, who expressed a characteristic phenotype of APS-1, had developed severe mucocutaneous candidiasis in early infancy and thereafter developed hypoparathyroidism and Addison's disease, along with a severe deterioration of his immunologic function. In contrast, the 44-year-old sister, who showed a...
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