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

Kazuhiko Kogawa, Jun Kudoh, Seiho Nagafuchi, Shouichi Ohga, Hitoshi Katsuta, Hiromi Ishibashi, Mine Harada, Toshiro Hara, Nobuyoshi Shimizu

研究成果: Contribution to journalArticle査読

33 被引用数 (Scopus)

抄録

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 noncharacteristic phenotype of APS-1, developed insulin-dependent diabetes with high anti-glutamic acid decarboxylase antibody, mild nail candidiasis, and autoimmune hepatitis with intact immunoreactivity. She had three susceptible human leukocyte antigen (HLA) loci for type 1 autoimmune diabetes. The expression of T cell receptor (TCR)Vβ5.1 increased in both patients, while the brother showed a widely suppressed expression of many TCRVβ families. Both individuals possessed compound heterozygous novel autoimmune regulator (AIRE) gene mutations (L29P and IVS9-1G>C). The same AIRE gene mutations can thus be associated with characteristic and noncharacteristic phenotypes of APS-1, and HLA may possibly influence the phenotype of APS-1.

本文言語英語
ページ(範囲)277-283
ページ数7
ジャーナルClinical Immunology
103
3 I
DOI
出版ステータス出版済み - 2002

All Science Journal Classification (ASJC) codes

  • 免疫アレルギー学
  • 免疫学

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