{"id":60128,"date":"2018-03-09T22:47:56","date_gmt":"2018-03-09T22:47:56","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-molecular-de-enfermedades-de-base-genetica-que-afectan-al-sistema-inmune\/"},"modified":"2018-03-09T22:47:56","modified_gmt":"2018-03-09T22:47:56","slug":"diagnostico-molecular-de-enfermedades-de-base-genetica-que-afectan-al-sistema-inmune","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/diagnostico-molecular-de-enfermedades-de-base-genetica-que-afectan-al-sistema-inmune\/","title":{"rendered":"Diagn\u00f3stico molecular de enfermedades de base gen\u00e9tica que afectan al sistema inmune."},"content":{"rendered":"<h2>Tesis doctoral de <strong> M\u00f3nica Mart\u00ednez Gallo <\/strong><\/h2>\n<p>Las inmunodeficiencias primarias o cong\u00e9nitas (idp)  constituyen un grupo de enfermedades de etiolog\u00eda diversa que tienen en com\u00fan un defecto cualitativo o cuantitativo del sistema inmunitario a consecuencia del cual se alteran sus funciones, comprometiendo la defensa contras la agresiones externas. En la actualidad, se ha flexionado esta definici\u00f3n dadno cabida a un mayor espectro de enfermedades que afectan al sistema inmune, y que no siempre implican un mayor aumento en la frecuencia de las infecciones, como aquellas que afectan a la homeostasis del sistema inmune. En el presente trabajo se describen las caracter\u00edsticas cl\u00ednicas e inmunol\u00f3gicas de tres pacientes con idp monog\u00e9nicas, dos pacientes con s\u00edndrome de hiper-igm, varias familias con s\u00edndrome linfoproliferativo autoinmune alps y un paciente con linfoproliferaci\u00f3n de c\u00e9lulas t doble positivas, en los que se llev\u00f3 a cabo el diagn\u00f3stico molecular. se analiz\u00f3 la capacidad oxidativa mediante nbt en granulocitos estimulaci\u00f3n con pma y e.Coli, en una paciente que sufria infecciones de repetici\u00f3n desde la infancia por bacterias catalasa positiva, observ\u00e1ndose la falta de producci\u00f3n de super\u00f3xido. Se realiz\u00f3 el estudio gen\u00e9tico de la subunidad p47-phox de la nadph oxidasa y se encontr\u00f3 que la mutaci\u00f3n responsable del defecto en la fagocitosis era una deleci\u00f3n del dinucle\u00f3tido gt al inicio del ex\u00f3n 2 del gen ncf1, siendo diagnosticada de enfermedad granulomatosa cr\u00f3nica (ecg). se estudi\u00f3 un paciente con infecciones de repetici\u00f3n desde los primeros meses de vida con lifnopenia t y b. Se realiz\u00f3 el diagn\u00f3stico de d\u00e9ficit de ada a trav\u00e9s de un ensayo de actividad enzim\u00e1tica. Posteriormente, se llev\u00f3 a cabo un trasplante alog\u00e9nico de un donante emperantedo haploid\u00e9ntico. La recuperaci\u00f3n del sistema inmunoll\u00f3gico del paciente tras el trasplante fue evidente. se estudi\u00f3 un paciente var\u00f3n con sospeccha cl\u00ednica de idp humoral que mostr\u00f3 un n\u00famero disminuido de c\u00e9lulas b . S<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico molecular de enfermedades de base gen\u00e9tica que afectan al sistema inmune.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico molecular de enfermedades de base gen\u00e9tica que afectan al sistema inmune. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M\u00f3nica Mart\u00ednez Gallo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 20\/07\/2007<\/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>Oscar De La Calle Martin<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: dolores Jaraquemada p\u00e9rez de guzm\u00e1n <\/li>\n<li>Manuel vicente Hern\u00e1ndez gonz\u00e1lez (vocal)<\/li>\n<li>isabel Badell serra (vocal)<\/li>\n<li>moises Labrador horrillo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M\u00f3nica Mart\u00ednez Gallo Las inmunodeficiencias primarias o cong\u00e9nitas (idp) constituyen un grupo de enfermedades de etiolog\u00eda diversa [&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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