AIRE mutation detection was performed in a cohort of 11 patients. Sequencing and TaqMan genotyping were used. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and the microsatellite markers. Seven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 likely affecting splicing, and a complete deletion of an AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.
COBISS.SI-ID: 25227481
Results revealed an independent association of the functionally relevant genetic polymorphisms in the oxidative stress related genes and diabetic retinopathy in patients with type 1 diabetes. The identification of these polymorphisms could help in identifying the metabolic control independent risk for an early development of this chronic complication.
COBISS.SI-ID: 26494169
Neutralizing autoantibodies to type I interferons (IFNs) arefound at high titers in almost every patient with APS-1, a disease causedby AIRE gene mutations that lead to defects in thymic T-cell selection. Combining genome-wide expression array with real time RT-PCR assays, we demonstrate that antibodies against IFN-alpha cause highly significant down-regulation of interferon-stimulated gene expression in cells from patients' blood. This down-regulation was lost progressively as these cells matured in cultures without neutralizing autoantibodies.
COBISS.SI-ID: 25229017
The study analysed novel clinical and laboratory results from a cohort of patients with x-linked agamaglobulinemia in Slovenia and Central-Eastern Europe. Correlations of genotype with clinical phenotype and course of disease were of special interest. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17) nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions.
COBISS.SI-ID: 25582041
In randomized sequences, 148 TrialNet subjects completed 549 tests with up to 2 MMTT and 2 GST tests on separate days, and 118 ECPT subjects completed 348 tests with either two MMTTs or two GSTs. Among individuals with up to 4 years' duration of type 1 diabetes, >85% had measurable stimulated C-peptide values. The MMTT stimulus produced significantly higher concentrations of C-peptide than the GST. Whereas both tests were highly reproducible, the MMTT was significantly more so. The majority of subjects preferred the MMTT, and there were few adverse events.
COBISS.SI-ID: 25226969