A Novel Missense Mutation of AIRE Gene in a Patient with Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy (APECED), Accompanied with Progressive Muscular Atrophy: Case Report and Review of the Literature in Japan

Endocrine Journal

EMIKO YAMADA⁴  KISHIKO NAKAJIMA³  KAZUKO YAMAZAKI⁴  HIDEHITO IMAMURA²  SHUUJI HORINOUCHI¹  KANJI SATO³  TAKAHISA DEGUCHI¹  KAZUE TAKANO³  YOSHIO KANAJI⁴ 

[1] Kagoshima City Hospital;Imamura Hospital;Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University;Thyroid Disease Institute, Kanaji Hospital

关键词: APECED;    Addison’s disease;    Hypoparathyroidism;    Candidiasis;    AIRE gene;   

DOI  :  10.1507/endocrj.49.625

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(40)Cited-By(15)Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene. A 39-year-old female patient developed chronic mucocutaneous candidiasis at 3 yrs, idiopathic hypoparathyroidism at 11 yrs, chronic hepatitis at 23 yrs, Addison’s disease and diabetes mellitus type 1 at 27 yrs. In addition, the patient developed progressive muscular atrophy of unknown etiology at the beginning of the third decade, and is bedridden at the present time. Her grandparents, parents, brother and daughter did not develop any features of APECED, but her father died of hepatoma. Direct sequencing of the AIRE gene revealed a novel missense mutation at exon 1 (R15C), which was identified to be of maternal origin. The other mutation was not found despite repeated sequencing of the whole coding regions. The R15C mutation was not detected in patients with idiopathic hypoparathyroidism (N = 10), idiopathic Addison’s disease (N = 3), and normal subjects (N = 55). Although we could not analyze the father’s gene, these results suggest that the patient is probably a compound heterozygote of the AIRE gene, in which the other abnormal allele could not be identified by the present analytical method. These data are compatible with the recent review that only one defective allele was detectable in some patients with clinically evident APECED. We found only six Japanese patients compatible with diagnosis of APECED, indicating that this autoimmune disease is extremely rare in our country.

【 授权许可】

Unknown