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 Kudo, Seiho Nagafuchi, Shouichi Ohga, Hitoshi Katsuta, Hiromi Ishibashi, Mine Harada, Toshiro Hara, Nobuyoshi Shimizu

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Abstract

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.

Original languageEnglish
Pages (from-to)277-283
Number of pages7
JournalClinical Immunology
Volume103
Issue number3 I
DOIs
Publication statusPublished - 2002

Fingerprint

Autoimmune Polyendocrinopathies
Regulator Genes
Siblings
Phenotype
Mutation
Candidiasis
HLA Antigens
Type 1 Diabetes Mellitus
Addison Disease
Hypoparathyroidism
Autoimmune Hepatitis
Glutamate Decarboxylase
Nails
T-Cell Antigen Receptor
Insulin
Antibodies

Keywords

  • AIRE (autoimmune regulator) gene
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
  • Autoimmune polyglandular syndrome type 1 (APS-1)
  • HLA
  • Insulin-dependent diabetes mellitus (IDDM)

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. / Kogawa, Kazuhiko; Kudo, Jun; Nagafuchi, Seiho; Ohga, Shouichi; Katsuta, Hitoshi; Ishibashi, Hiromi; Harada, Mine; Hara, Toshiro; Shimizu, Nobuyoshi.

In: Clinical Immunology, Vol. 103, No. 3 I, 2002, p. 277-283.

Research output: Contribution to journalArticle

Kogawa, Kazuhiko ; Kudo, Jun ; Nagafuchi, Seiho ; Ohga, Shouichi ; Katsuta, Hitoshi ; Ishibashi, Hiromi ; Harada, Mine ; Hara, Toshiro ; Shimizu, Nobuyoshi. / Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. In: Clinical Immunology. 2002 ; Vol. 103, No. 3 I. pp. 277-283.
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