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      Síndrome pluriglandular autoinmune: Revisión Translated title: Pluriglandular autoimmune syndrome: Systematic review

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          Abstract

          Se han descrito múltiples casos de síndromes autoinmunes que cursan con hipofunción glandular asociada a otras enfermedades, no siempre endocrinológicas, que, en ocasiones, presentan agregación familiar. Se conoce como síndromes poliglandulares autoinmunes (SPA) aquellos en los que coexisten al menos dos insuficiencias de glándulas endocrinas como consecuencia de un mecanismo autoinmune basado en la acción de los autoanticuerpos o los linfocitos T activados frente a distintos antígenos de los órganos diana o de las glándulas endocrinas, o en el bloqueo de la función hormonal. A continuación, se presenta una revisión de los principales síndromes autoinmunes, los criterios diagnósticos de los mismos y los procesos autoinmunes involucrados.

          Translated abstract

          There are a lot of autoimmune syndromes with glandular disfunction which are associated to another diseases. Sometimes, these processes are associated to similar cases in the same family. Autoimmune polyglandular syndromes are characterized by the coexistence of two or more endocrine insufficiencies due to an autoimmune mechanism: the activity of autoantibodies or T activated lymphocytes against organs or endocrine glands. In this report, they have been described the main autoimmune syndromes, the diagnostic methods and the autoimmune mechanisms which take a role in their origin.

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          Most cited references52

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          Positional cloning of the APECED gene.

          Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. We have isolated a novel gene from this region, AIRE (autoimmune regulator), which encodes a protein containing motifs suggestive of a transcription factor including two zinc-finger (PHD-finger) motifs, a proline-rich region and three LXXLL motifs. Two mutations, a C-->T substitution that changes the Arg 257 (CGA) to a stop codon (TGA) and an A-->G substitution that changes the Lys 83 (AAG) to a Glu codon (GAG), were found in this novel gene in Swiss and Finnish APECED patients. The Arg257stop (R257X) is the predominant mutation in Finnish APECED patients, accounting for 10/12 alleles studied. These results indicate that this gene is responsible for the pathogenesis of APECED. The identification of the gene defective in APECED should facilitate the genetic diagnosis and potential treatment of the disease and further enhance our general understanding of the mechanisms underlying autoimmune diseases.
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            Epidemiology and Estimated Population Burden of Selected Autoimmune Diseases in the United States

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              Adrenal insufficiency.

              W Oelkers (1996)
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                ami
                Anales de Medicina Interna
                An. Med. Interna (Madrid)
                Arán Ediciones, S. L. (, , Spain )
                0212-7199
                September 2007
                : 24
                : 9
                : 445-452
                Affiliations
                [01] orgnameHospital General Universitario de Alicante orgdiv1Servicio de Oncología Médica
                [02] Elche orgnameHospital General Universitario de Alicante orgdiv1Servicio de Medicina Interna
                Article
                S0212-71992007000900009
                10.4321/s0212-71992007000900009
                4a2bc330-7bf1-4208-a089-064f0eaa4d47

                This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 International License.

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                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 39, Pages: 8
                Product

                SciELO Spain


                Autoinmunidad,Síndrome pluriglandular,Insuficiencia suprarrenal autoinmune,Autoimmunity,Pluriglandular syndrome,Autoimmune adrenal insufficiency

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