Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity.
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Autoantigens↗
Biomedical subjects
N Sillanpää
Publications and source records attributed to N Sillanpää.
Signs and symptoms of temporomandibular disorders in children with different types of headache.
Headache is a common symptom among children and teenagers. Both bruxism and muscle and joint tenderness have been found in children with headache. Children with migraine headache report more temporomandibular disorder (TMD) symptoms than do those with tension-type headache. The aim of the present study was to investigate the association of different types of headache with TMD and sex in children. Altogether 297 randomly selected schoolchildren aged 13-14 years participated in a blind study setting. There were no statistically significant differences between the headache groups with regard to TMD signs, although the migraine and migraine-type headache groups had the highest percentage of subjects with more severe TMD signs. Nor were there any statistical differences between sexes or between the headache groups with regard to subjective symptoms of TMD. The present results with children differed from earlier results with adults. First, no association was found between tension headache and TMD, and, second, no sex difference in TMD children was observed at this age.
Adolescent↗
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM#240300), a monogenic recessively inherited disease characterized by destructive autoimmune diseases of the endocrine organs, chronic candidiosis of mucous membranes and ectodermal dystrophies. In this study the expression of murine homolog for AIRE protein, Aire, was detected in a fraction of thymic medullary epithelial cells. Subcellularly, in thymus the protein appears as concentrated into nuclear dot-like structures, whereas in transfected cells the protein is also bound along a cytosolic fibrillar network. By RT-PCR Aire mRNA was detected in thymus, lymph node, spleen and testis although the second round PCR amplified Aire specific band from most mouse tissues analyzed. Furthermore, the Aire mRNA was detected in dendritic cell (DC) populations isolated from thymus and spleen, representing both myeloid- and lymphoid-related lineages of DC. We also demonstrate that the Aire protein is absent in the thymus of RelB-deficient mouse and in NOD thymus most of the Aire positive cells showed an abnormal morphology. These results suggest that the Aire protein is associated with the normal development and/or action of a subset of thymic medullary stromal cells involved in tolerance induction.
Alternative Splicing↗