{"id":286042,"date":"2024-03-01T00:54:11","date_gmt":"2024-02-29T23:54:11","guid":{"rendered":"https:\/\/dhcp205002.cbm.uam.es\/?p=286042"},"modified":"2024-10-17T16:52:26","modified_gmt":"2024-10-17T14:52:26","slug":"describen-un-nuevo-tipo-de-deficiencia-inmunitaria-congenita","status":"publish","type":"post","link":"https:\/\/www.cbm.uam.es\/index.php\/2024\/03\/01\/describen-un-nuevo-tipo-de-deficiencia-inmunitaria-congenita\/","title":{"rendered":"Describen un nuevo tipo de deficiencia inmunitaria cong\u00e9nita"},"content":{"rendered":"<p>Una investigaci\u00f3n internacional liderada por el Hospital Necker, de la Universidad de Par\u00eds, en la que participa el Centro de Biolog\u00eda Molecular Severo Ochoa (CBM), del Consejo Superior de Investigaciones Cient\u00edficas (CSIC) y de la Universidad Aut\u00f3noma de Madrid (UAM), ha descrito un nuevo tipo de error cong\u00e9nito de la inmunidad, causado por la deficiencia total de una prote\u00edna, pre-TCRa (pTa), que constituye la subunidad invariable del receptor pre-TCR, el cual se pensaba que era indispensable para el desarrollo de los linfocitos Tab, -un tipo de gl\u00f3bulos blancos que nos protegen de las infecciones-. El estudio indica que esa deficiencia total causa una enfermedad rara, y tambi\u00e9n reporta que la deficiencia cong\u00e9nita parcial de la misma prote\u00edna es muy frecuente en Oriente Pr\u00f3ximo y Medio.<\/p>\n<p>El trabajo, que se publica hoy en la revista\u00a0<a href=\"\/\/rauv.adm.ucm.es\/OTRI$\/CULTURA%20CIENT%C3%8DFICA\/1%20INFORMACI%C3%93N%20CIENT%C3%8DFICA\/1%20NOTICIAS\/2024\/Febrero\/JR_%20inmunodeficiencia\/10.1126\/science.adh4059\" target=\"_blank\" rel=\"noopener\"><em>Science<\/em><\/a>, es una aportaci\u00f3n muy novedosa y completa al panorama de las mutaciones raras y frecuentes en el gen\u00a0<em>PTCRA<\/em>, que causan deficiencia total o parcial de pTa humana y sus consecuencias inmunol\u00f3gicas y cl\u00ednicas, se\u00f1ala Mar\u00eda Luisa Toribio, investigadora del grupo desarrollo del sistema linfohematopoy\u00e9tico humano del CBM.<\/p>\n<p>El estudio, que ha tenido una duraci\u00f3n de 4 a\u00f1os, nace de observaciones puntuales en varios pa\u00edses (pacientes con mutaciones graves en\u00a0<em>PTCRA<\/em>), que se\u00a0centralizaron en el laboratorio franc\u00e9s. Incluye su caracterizaci\u00f3n cl\u00ednica, inmunol\u00f3gica, gen\u00e9tica, molecular y celular en muestras de origen humano y de rat\u00f3n, y en modelos celulares.<\/p>\n<p>Hasta ahora se pensaba que no pod\u00eda existir la deficiencia total de esta prote\u00edna en humanos, ya que su ausencia en ratones neonatos era muy grave. Sin embargo, en los pacientes pedi\u00e1tricos estudiados (menores de ocho a\u00f1os), la deficiencia total cursa sin s\u00edntomas cl\u00ednicos aparentes; mientras que, en los adultos, se asocia a infecciones, linfoproliferaci\u00f3n o autoinmunidad leves desde la adolescencia, y la deficiencia parcial se asocia a autoinmunidad.<\/p>\n<p>El art\u00edculo demuestra ahora que los ratones deficientes que se cr\u00edan hasta edades equivalentes a los adultos humanos desarrollan suficientes linfocitos T para tener un sistema inmunitario bastante funcional, que es lo que se observa en los pacientes, lo que implica \u00a0la existencia de v\u00edas no can\u00f3nicas de desarrollo de linfocitos Tab, independientes del pre-TCR.<\/p>\n<p>\u201cEstos resultados ponen de manifiesto una nueva enfermedad rara, la deficiencia cong\u00e9nita de pTa, que puede causar inmunopat\u00edas leves. Extender estos estudios a m\u00e1s pacientes es esencial para la detecci\u00f3n precoz de la enfermedad y el tratamiento de los casos m\u00e1s graves.<\/p>\n<p><strong>Referencia bibliogr\u00e1fica:\u00a0<\/strong>B\u00e9ziat V. et al. &#8220;The immunopathological landscape of human pre-TCR\u03b1 deficiency: from rare to common variants&#8221;<em>. Science<\/em>. Marzo 2024. DOI:\u00a0<a href=\"https:\/\/doi.org\/10.1126\/science.adh4059\" target=\"_blank\" rel=\"noopener\">10.1126\/science.adh4059<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Una investigaci\u00f3n internacional liderada por el Hospital Necker, de la Universidad de Par\u00eds, en la que participa el Centro de Biolog\u00eda Molecular Severo Ochoa (CBM), del Consejo Superior de Investigaciones [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":286043,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[44,54],"tags":[],"class_list":["post-286042","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","category-scientific-article"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Describen un nuevo tipo de deficiencia inmunitaria cong\u00e9nita - 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