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Eur J Endocrinol. 2008 Nov;159(5):633-9. doi: 10.1530/EJE-08-0328. Epub 2008 Aug 5.

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.

Author information

1
Centre for Medical Genetics, University Medical Centre, University Children's Hospital, Ljubljana, Slovenia. katarina.trebusak@kclj.si

Abstract

OBJECTIVE:

Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.

DESIGN:

AIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.

METHODS:

Sequencing 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.

RESULTS:

Seven 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.

CONCLUSIONS:

AIRE 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.

PMID:
18682433
DOI:
10.1530/EJE-08-0328
[Indexed for MEDLINE]

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