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- Title
Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations.
- Authors
Orlova, Elizaveta M.; Bukina, Anna M.; Kuznetsova, Elvira S.; Kareva, Maria A.; Zakharova, Ekaterina U.; Peterkova, Valentina A.; Dedov, Ivan I.
- Abstract
Background: Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often challenging. Aim: We aimed to provide clinical and mutational data for a large number of APS-1 patients in the Russian population. Methods: We analyzed clinical variations and component prevalence in APS-1 patients. DNA screening for autoimmune regulator (AIRE) gene mutations was performed in established APS-1 patients and in patients with the single components of chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, or alopecia. Results: We identified 46 patients from 42 families with APS-1. Eighteen different components were present in the patients, including very rare conditions - bone dysplasia and retinitis pigmentosa. We identified 10 different mutations, 3 of which were novel (M1T, E298K, c1053_1060del). The common Finnish mutation, R257X, was the most frequent in our population, present in 64/92 (70%) of the alleles. Conclusion: We found that the R257X AIRE mutation is common in Russian APS-1 patients. The majority of children with hypoparathyroidism and chronic mucocutaneous candidiasis were carriers of the AIRE mutations.
- Subjects
SYNDROMES in children; GENETICS of autoimmune diseases; GENETIC mutation; MUCOUS membrane diseases; HYPOPARATHYROIDISM; ADRENAL diseases; GENETICS
- Publication
Hormone Research in Paediatrics, 2010, Vol 73, Issue 6, p449
- ISSN
1663-2818
- Publication type
Article
- DOI
10.1159/000313585