Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations

Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations

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, alo...

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Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 103(2002), 3 Pt 1 vom: 15. Juni, Seite 277-83
1. Verfasser: Kogawa, Kazuhiko (VerfasserIn)
Weitere Verfasser: Kudoh, Jun, Nagafuchi, Seiho, Ohga, Shouichi, Katsuta, Hitoshi, Ishibashi, Hiromi, Harada, Mine, Hara, Toshiro, Shimizu, Nobuyoshi
Format: Aufsatz
Sprache:English
Veröffentlicht: 2002
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Transcription Factors