Cloning ofAire,the Mouse Homologue of the Autoimmune Regulator (AIRE) Gene Responsible for Autoimmune Polyglandular Syndrome Type 1 (APS1)

Genomics ◽  
1999 ◽  
Vol 55 (3) ◽  
pp. 322-326 ◽  
Author(s):  
Cong-Yi Wang ◽  
Jing-Da Shi ◽  
Abdoreza Davoodi-Semiromi ◽  
Jin-Xiong She
Keyword(s):  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Mouse Homologue ◽  
Aire Gene ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1

2008 ◽  
Vol 159 (5) ◽  
pp. 633-639 ◽  
Author(s):  
Katarina Trebušak Podkrajšek ◽  
Tatjana Milenković ◽  
Roelof J Odink ◽  
Hedi L Claasen-van der Grinten ◽  
Nina Bratanič ◽  
...  
Keyword(s):  
Mutation Detection ◽  
Gene Mutations ◽  
Chronic Otitis Media ◽  
Silent Mutation ◽  
Atypical Presentation ◽  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

2010 ◽  
Vol 73 (6) ◽  
pp. 449-457 ◽  
Author(s):  
Elizaveta M. Orlova ◽  
Anna M. Bukina ◽  
Elvira S. Kuznetsova ◽  
Maria A. Kareva ◽  
Ekaterina U. Zakharova ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Clinical Variants ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia / Klinične, Genetske nn Imunološke Značilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji

2015 ◽  
Vol 54 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Nina Bratanic ◽  
Kai Kisand ◽  
Magdalena Avbelj Stefanija ◽  
Tadej Battelino ◽  
Katarina Trebusak Podkrajsek
Keyword(s):  
Growth Retardation ◽  
Type I Interferons ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Clinical Genetic ◽  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
Autoimmune Polyglandular Syndrome Type

Abstract Introduction. Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Clinical, genetic and immunological characteristics of Slovenian paediatric APS-1 patients were investigated. Methods. Existing medical records of 15 APS-1 patients were rewieved, when necessary, additional clinical and laboratory investigations were issued. AIRE gene analysis was performed to identify causative mutations, and autoantibodies against type I interferons were measured by luminescence immunoprecipitation system. Results. Patients had one to eight different manifestations of the disease. CMC was present in all, HP in 12/15 (80 %) and AD in 8/15 (53 %) patients. Growth retardation, due to hyposomatotropism, growth hormone resistance, autoimmune thyroiditis, corticosteroid treatment, malabsorption or secretory failure of exocrine pancreas, was observed in altogether 7 (46 %) patients. Six different AIRE gene mutations were detected and p.R257X mutation was present in 63.3 % of pathological alleles. Antibodies against type I interferons were detected in all patients. Conclusion. APS-1 is a rare disorder with a broad spectrum of clinical manifestations, which, if unrecognized or inadequately treated may be fatal. AIRE gene mutational analysis and autoantibodies against type I interferons are important in early identification of the disease. The aetiology of growth retardation was shown to be extremely diverse, frequently caused by less characteristic manifestations. APS-1 may affect patients’ quality of life in numerous ways, and may cause great psychosocial burden leading to depression and suicidal thoughts even in paediatric patients.

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