Sökning: "autoimmune polyendocrine syndrome type I"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden autoimmune polyendocrine syndrome type I.

1. 1. Autoimmune Regulator Deficient Mice, an Animal Model of Autoimmune Polyendocrine Syndrome Type I

   Författare :Signe Hässler; Ola Winqvist; Olle Kämpe; Bertrand Huard; Uppsala universitet; []
   Nyckelord :Molecular medicine; autoimmune regulator; autoimmune polyendocrine syndrome type I; peripheral tolerance; antigen presenting cells; autoimmunity; danger signal; knockout mice; Molekylärmedicin;

   Sammanfattning : Autoimmune diseases develop when the immune system fails to distinguish self from non-self or when the immune system is hypersensitive to endogenous or exogenous danger signals, or when a tissue erroneously sends a danger signal to the immune system. The education of the immune system to distinguish self from non-self is mainly carried out in the thymus and gives rise to central tolerance, whereas the ability to sense a danger or a healthy tissue constitutes peripheral tolerance. LÄS MER

3. 2. Alopecia and vitiligo in autoimmune polyendocrine syndrome type I

   Författare :Håkan Hedstrand; Uppsala universitet; []
   Nyckelord :Medical sciences; APS I; autoantigen; vitiligo; alopecia areata; cDNA-library; immunoscreening; tyrosine hydroxylase; SOX9; SOX10; molecular mimicry; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Autoimmune polyendocrine syndrome type I (APS I) is a recessively inherited disease caused by mutations in a recently identified gene, AIRE, on human chromosome 21. APS I patients are affected by autoimmune destruction of multiple endocrine glands and other organs as well as ectodermal structures. LÄS MER

4. 3. Organ-specific autoantibodies in Addison's disease and autoimmune polyendocrine syndrome type I

   Författare :Annika Söderbergh; Uppsala universitet; []
   Nyckelord :Medical sciences; Addison s disease; APS I; Down syndrome; AIRE; autoantibodies; autoantigens; autoimmunity; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Assessment of autoantibodies is a valuable tool in the diagnostic procedure of autoimmune diseases. The aim of this study was to investigate the prevalence of different autoantibodies and their associations with disease manifestations in patients with Addison's disease and autoimmune polyendocrine syndrome type I (APS I). LÄS MER

5. 4. Pteridine dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type 1

   Författare :Olov Ekwall; Uppsala universitet; []
   Nyckelord :Medical sciences; APS I; alopecia; autoantigen; cDNA; malabsorption; phenylalanine hydroxylase; pteridine; tryptophan hydroxylase; tyrosine hydroxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Autoimmune polyendocrine syndrome type I (APS) is a monogenous, recessively inherited disease characterised by endocrine and non-endocrine autoimmune manifestations. One fifth of APS I patients suffer from periodic intestinal dysfunction with varying degrees of malabsorbtion, steatorrhea and constipation. LÄS MER

7. 5. Clinical and experimental studies of organ-specific autoimmune diseases : With special reference to Addison's disease and autoimmune hepatitis : by Gennet Gebre-Medhin

   Författare :Gennet Gebre-Medhin; Uppsala universitet; []
   Nyckelord :Medical sciences; Addison s Disease; replacement therapy; DHEA; autoimmune hepatitis; APS I; autoantigen; cytochrome P4501A2; aromatic L-amino acid decarboxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Organ-specific autoimmunity constitutes a large health problem, where both the clinical management and our understanding of the pathogenetic mechanisms need to improve. Women with Addison's disease have abnormally low levels of dehydroepiandrosterone (DHEA), its sulphate ester (DHEA-S) and androgens relative to age, and many patients complain of physical and mental fatigue and low stress tolerance. LÄS MER