Journal
CLINICAL IMMUNOLOGY
Volume 103, Issue 3, Pages 277-283Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1006/clim.2002.5208
Keywords
autoimmune polyglandular syndrome type 1(APS-1); autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); AIRE (autoimmune regulator) gene; insulin-dependent diabetes mellitus (IDDM); HLA
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We herein report on two Japanese siblings with antoimmune 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 I autoimmune diabetes. The expression of T cell receptor (TCR)Vbeta5.1 increased in both patients, while the brother showed a widely suppressed expression of many TCRVbeta 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. (C) 2002 Elsevier Science (USA).
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