{"id":97663,"date":"2009-02-12T00:00:00","date_gmt":"2009-02-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracteristicas-clinicas-inmunologicas-y-moleculares-en-pacientes-con-agammaglobulinemia-ligada-al-cromosoma-x-o-sindrome-de-bruton\/"},"modified":"2009-02-12T00:00:00","modified_gmt":"2009-02-12T00:00:00","slug":"caracteristicas-clinicas-inmunologicas-y-moleculares-en-pacientes-con-agammaglobulinemia-ligada-al-cromosoma-x-o-sindrome-de-bruton","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pediatria\/caracteristicas-clinicas-inmunologicas-y-moleculares-en-pacientes-con-agammaglobulinemia-ligada-al-cromosoma-x-o-sindrome-de-bruton\/","title":{"rendered":"Caracteristicas clinicas, inmunol\u00f3gicas y moleculares en pacientes con agammaglobulinemia ligada al cromosoma x o sindrome de bruton."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Antonia Jos\u00e9 \u00e1lvarez M\u00e1rquez <\/strong><\/h2>\n<p>Las deficiencias inmunitarias en las que predomina el d\u00e9ficit en la producci\u00f3n de anticuerpos son las inmunodeficiencias primarias m\u00e1s frecuentes. Forman un grupo heterog\u00e9neo de defectos inmunol\u00f3gicos, cl\u00ednicamente definidos por una mayor susceptibilidad a padecer infecciones recurrentes. Aunque las manifestaciones cl\u00ednicas suelen ser similares entre s\u00ed, algunos de ellos presentan particularidades propias.  es necesario efectuar un diagn\u00f3stico adecuado de estos pacientes, ya que ello permite un tratamiento precoz de la enfermedad, lo que reduce las secuelas a largo plazo derivadas de las infecciones recurrentes. Por otra parte, los errores a la hora de catalogar a un paciente dentro de este grupo de inmunodeficiencias son comunes debido a la similitud en su forma de presentaci\u00f3n cl\u00ednica. Es necesario, por ello, profundizar en el estudio de los pacientes con d\u00e9ficit de anticuerpos, y este punto es particularmente importante cuando existe una base gen\u00e9tica conocida para la enfermedad y se halla ligada al cromosoma x. En este sentido, se pueden identificar posibles portadoras, as\u00ed como nuevos casos en las fases iniciales o incluso antes de que aparezcan los s\u00edntomas de la enfermedad, existiendo, por tanto, la posibilidad de ofrecer consejo gen\u00e9tico al paciente y\/o a la familia.  dentro de las deficiencias predominantemente de anticuerpos, el defecto ligado al cromosoma x m\u00e1s com\u00fan es el s\u00edndrome de bruton o agammaglobulinemia ligada al cromosoma x.  los objetivos del trabajo son:  1) estudio cl\u00ednico, inmunol\u00f3gico y gen\u00e9tico de car\u00e1cter observacional en pacientes varones con historia cl\u00ednica de infecciones graves de repetici\u00f3n desde la infancia y con niveles muy reducidos de todas las inmunoglobulinas y de linfocitos b.  2) estudio de familiares de dichos pacientes para la caracterizaci\u00f3n de portadoras del defecto gen\u00e9tico.  3) conocer la incidencia y preValencia real del s\u00edndrome de bruton en nuestra poblaci\u00f3n.  4) mejora de los m\u00e9todos de diagn\u00f3stico.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracteristicas clinicas, inmunol\u00f3gicas y moleculares en pacientes con agammaglobulinemia ligada al cromosoma x o sindrome de bruton.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracteristicas clinicas, inmunol\u00f3gicas y moleculares en pacientes con agammaglobulinemia ligada al cromosoma x o sindrome de bruton. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Antonia Jos\u00e9 \u00e1lvarez M\u00e1rquez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Sevilla<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 02\/12\/2009<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Antonio N\u00fa\u00f1ez Rold\u00e1n<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: martin Navarro merino <\/li>\n<li>josefa Melero ruiz (vocal)<\/li>\n<li>almudena Sampalo la\u00ednz (vocal)<\/li>\n<li>isidro Prat arrojo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Antonia Jos\u00e9 \u00e1lvarez M\u00e1rquez Las deficiencias inmunitarias en las que predomina el d\u00e9ficit en la producci\u00f3n de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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