{"id":26578,"date":"2024-09-23T15:45:25","date_gmt":"2024-09-23T22:45:25","guid":{"rendered":"https:\/\/ameripharmaspecialty.com\/?p=26578"},"modified":"2024-09-23T15:45:26","modified_gmt":"2024-09-23T22:45:26","slug":"severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants","status":"publish","type":"post","link":"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/","title":{"rendered":"Inmunodeficiencia combinada grave (IDCG): un trastorno poco com\u00fan y potencialmente mortal en beb\u00e9s"},"content":{"rendered":"<p>La inmunodeficiencia combinada grave (IDCG) es un tipo raro pero grave de trastorno de inmunodeficiencia primaria que aparece en la infancia (a los 6 meses o antes). Los ni\u00f1os que nacen con IDCG tienen un sistema inmunitario muy debilitado. Aunque parecen sanos al nacer, infecciones comunes como la varicela, la neumon\u00eda y la meningitis pueden ser mortales debido a un sistema inmunitario gravemente comprometido.<\/p>\n\n\n\n<div  id=\"call-to-action-9a0c4a333d981469a64d8ec2906aa99b\" style=\"\" class=\"ct_call_to_action\">\n\t<div class=\"container\">\n\t\t<div class=\"block-wrap cta\">\n\t\t\t<div class=\"block-column\">\n\t\t\t\t<div class=\"cta_headings\">\n\t\t\t\t\t\t\t\t\t\t\t<h4 class=\"cta__heading\">\n\t\t\t\t\t\t\tHabla con un especialista\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"cta__sub__heading\">\n\t\t\t\t\t\t\tAcerca de la asistencia para copagos\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<span class=\"cta_btn\">\n\t\t\t\t\t\t<a href=\"tel:8777780318\"> (877) 778-0318<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t<\/div>\n\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n\n<p>En Estados Unidos, alrededor de <a href=\"https:\/\/rarediseases.org\/rare-diseases\/severe-combined-immunodeficiency\/\">1 de cada 100.000 beb\u00e9s<\/a> Cada a\u00f1o nacen ni\u00f1os con IDCG. Anteriormente, muchos ni\u00f1os con IDCG mor\u00edan en la primera infancia debido a infecciones frecuentes y a la escasez de tratamientos disponibles.&nbsp;&nbsp;<\/p>\n\n\n\n<p>Sin embargo, gracias a los recientes avances cient\u00edficos, la detecci\u00f3n precoz y la intervenci\u00f3n temprana en reci\u00e9n nacidos pueden ayudar a tratar con \u00e9xito a ni\u00f1os con IDCG.&nbsp;<\/p>\n\n\n\n<p>Analicemos los conceptos b\u00e1sicos del SCID, incluidas sus causas, tipos, s\u00edntomas, factores de riesgo, diagn\u00f3stico y tratamiento disponible.&nbsp;<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Alternar tabla de contenido\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Palanca<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#What_Is_Severe_Combined_Immunodeficiency\" >\u00bfQu\u00e9 es la inmunodeficiencia combinada grave?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#What_Happens_in_Severe_Combined_Immunodeficiency\" >\u00bfQu\u00e9 ocurre en la inmunodeficiencia combinada grave?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#What_Causes_Severe_Combined_Immunodeficiency_SCID\" >\u00bfQu\u00e9 causa la inmunodeficiencia combinada grave (SCID)?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#How_Is_Severe_Combined_Immunodeficiency_SCID_Classified\" >\u00bfC\u00f3mo se clasifica la inmunodeficiencia combinada grave (SCID)?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Classical_X-linked_SCID\" >SCID cl\u00e1sica ligada al cromosoma X<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#ADA_Deficiency_SCID\" >SCID por deficiencia de ADA\u00a0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Leaky_SCID\" >SCID con fugas\u00a0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#How_You_Can_Identify_if_Your_Child_Has_Severe_Combined_Immunodeficiency_SCID\" >C\u00f3mo identificar si su hijo tiene inmunodeficiencia combinada grave (IDCG)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#What_Is_the_Diagnosis_Procedure_for_Severe_Combined_Immunodeficiency_SCID\" >\u00bfCu\u00e1l es el procedimiento de diagn\u00f3stico de la inmunodeficiencia combinada grave (SCID)?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#How_Is_SCID_Treated\" >\u00bfC\u00f3mo se trata la SCID?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Bone_Marrow_Transplant\" >Trasplante de m\u00e9dula \u00f3sea<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Enzyme_Replacement_Therapy\" >Terapia de reemplazo enzim\u00e1tico<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Gene_Therapy\" >Terapia g\u00e9nica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Intravenous_Immunoglobulin_IVIG\" >Inmunoglobulina intravenosa (IVIG)<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/severe-combined-immunodeficiency-scid-a-rare-life-threatening-disorder-in-infants\/#Takeaway\" >Llevar<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Is_Severe_Combined_Immunodeficiency\"><\/span><strong>\u00bfQu\u00e9 es la inmunodeficiencia combinada grave?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Inmunodeficiencia combinada grave, tambi\u00e9n conocida como \u201c<a href=\"https:\/\/primaryimmune.org\/resources\/news-articles\/story-david-vetter\">ni\u00f1o burbuja o s\u00edndrome del ni\u00f1o en la burbuja<\/a>\u201d es un grupo de trastornos hereditarios (gen\u00e9ticos) que afectan el sistema inmunitario de los reci\u00e9n nacidos. Esta afecci\u00f3n se revel\u00f3 por primera vez tras el estreno de la pel\u00edcula para televisi\u00f3n de 1976 sobre David Vetter (una historia centrada en un ni\u00f1o que naci\u00f3 con IDCG y pas\u00f3 sus 12 a\u00f1os viviendo en una burbuja de pl\u00e1stico para prevenir la infecci\u00f3n).&nbsp;<\/p>\n\n\n\n<p>Los ni\u00f1os con IDCG son muy susceptibles a infecciones comunes debido a un sistema inmunitario deficiente. Como resultado, su cuerpo es incapaz de combatir ciertas bacterias, virus y hongos. Esto puede eventualmente provocar una muerte prematura.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Happens_in_Severe_Combined_Immunodeficiency\"><\/span><strong>\u00bfQu\u00e9 ocurre en la inmunodeficiencia combinada grave?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Normalmente, el sistema inmunol\u00f3gico de un beb\u00e9 en desarrollo comienza en la m\u00e9dula \u00f3sea, donde las c\u00e9lulas madre se diferencian en tres tipos diferentes de c\u00e9lulas: plaquetas, c\u00e9lulas sangu\u00edneas y gl\u00f3bulos blancos (GB).&nbsp;<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"420\" height=\"272\" src=\"https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1.jpg\" alt=\"3D illustration of T-cells\" class=\"wp-image-26582\" srcset=\"https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1.jpg 420w, https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1-300x194.jpg 300w, https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1-86x56.jpg 86w, https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1-167x108.jpg 167w, https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1-280x181.jpg 280w, https:\/\/ameripharmaspecialty.com\/wp-content\/uploads\/2024\/09\/t-cells-1-370x240.jpg 370w\" sizes=\"auto, (max-width: 420px) 100vw, 420px\" \/><\/figure>\n<\/div>\n\n\n<p>Los gl\u00f3bulos blancos (GB), en particular, son las c\u00e9lulas que ayudan al cuerpo a combatir ciertos pat\u00f3genos (p. ej., bacterias, hongos y virus) para prevenir infecciones o enfermedades. Existen varios tipos de GB, incluyendo los linfocitos, que son c\u00e9lulas B y c\u00e9lulas T que realizan las siguientes funciones:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>c\u00e9lulas T<\/strong> Identificar, atacar y matar el pat\u00f3geno.<\/li>\n\n\n\n<li><strong>c\u00e9lulas B<\/strong> funcionan como c\u00e9lulas de memoria (c\u00e9lulas que recuerdan o memorizan el pat\u00f3geno causante de la infecci\u00f3n) y c\u00e9lulas plasm\u00e1ticas (c\u00e9lulas que producen anticuerpos en caso de que el cuerpo se exponga nuevamente al pat\u00f3geno).<\/li>\n<\/ul>\n\n\n\n<p>En los ni\u00f1os con IDCG, ambos linfocitos (c\u00e9lulas T y B) est\u00e1n afectados o pr\u00e1cticamente ausentes. Como resultado, el sistema inmunitario se debilita considerablemente y no funciona correctamente para combatir los pat\u00f3genos causantes de infecciones.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Causes_Severe_Combined_Immunodeficiency_SCID\"><\/span><strong>\u00bfQu\u00e9 causa la inmunodeficiencia combinada grave (SCID)?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>La SCID se produce debido a mutaciones gen\u00e9ticas en m\u00faltiples genes de los cromosomas X. Estos genes participan principalmente en el desarrollo y el funcionamiento de las c\u00e9lulas inmunes, como las c\u00e9lulas B, las c\u00e9lulas T y las c\u00e9lulas asesinas naturales (c\u00e9lulas NK).&nbsp;<\/p>\n\n\n\n<p>La IDCG es un trastorno recesivo ligado al cromosoma X y solo afecta a los hombres, ya que solo tienen un cromosoma X. Las mujeres pueden ser portadoras y transmitir los genes defectuosos a sus hijos varones. Sin embargo, en m\u00e1s de... <a href=\"https:\/\/www.niaid.nih.gov\/diseases-conditions\/severe-combined-immunodeficiency-scid\">80% de casos<\/a>Los ni\u00f1os con SCID no muestran antecedentes familiares de SCID.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"How_Is_Severe_Combined_Immunodeficiency_SCID_Classified\"><\/span><strong>\u00bfC\u00f3mo se clasifica la inmunodeficiencia combinada grave (SCID)?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Los proveedores de atenci\u00f3n m\u00e9dica han clasificado la IDCG en varios tipos seg\u00fan el tipo de defectos gen\u00e9ticos. En <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK539762\/\">15% de casos<\/a>Se conocen defectos gen\u00e9ticos. A continuaci\u00f3n, se presentan algunos tipos de IDCG:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Classical_X-linked_SCID\"><\/span>SCID cl\u00e1sica ligada al cromosoma X<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>La SCID cl\u00e1sica ligada al cromosoma X se produce como resultado de una mutaci\u00f3n en un gen (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/x-linked-severe-combined-immunodeficiency\/#inheritance\">Gen IL2RG<\/a>) ubicado en el cromosoma X. En este tipo, los gl\u00f3bulos blancos crecen y se desarrollan de forma anormal. Como resultado, los pacientes con esta afecci\u00f3n presentan un recuento bajo de linfocitos T, linfocitos B y linfocitos citol\u00edticos naturales (NK) que no funcionan. Este tipo afecta principalmente a los varones, ya que solo tienen una copia del cromosoma X.&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ADA_Deficiency_SCID\"><\/span><strong>SCID por deficiencia de ADA\u00a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>En este tipo, una mutaci\u00f3n en el gen ADA provoca una deficiencia de la enzima ADA, necesaria para la supervivencia de las c\u00e9lulas T. Los m\u00e9dicos llaman a este tipo <a href=\"https:\/\/www.genome.gov\/Genetic-Disorders\/Severe-Combined-Immunodeficiency\">SCID por deficiencia de ADA<\/a>.&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Leaky_SCID\"><\/span><strong>SCID con fugas\u00a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>En este tipo, el ni\u00f1o tiene c\u00e9lulas T notables o incluso en exceso, que causan inflamaci\u00f3n y da\u00f1os al cuerpo.<\/p>\n\n\n\n<div  id=\"call-to-action-4ec5f8141a94dd363f299dea55d4488e\" style=\"\" class=\"ct_call_to_action\">\n\t<div class=\"container\">\n\t\t<div class=\"block-wrap cta\">\n\t\t\t<div class=\"block-column\">\n\t\t\t\t<div class=\"cta_headings\">\n\t\t\t\t\t\t\t\t\t\t\t<h4 class=\"cta__heading\">\n\t\t\t\t\t\t\tObtenga autorizaci\u00f3n previa para IgIV\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<span class=\"cta_btn\">\n\t\t\t\t\t\t<a href=\"#form\">Programar una consulta<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t<\/div>\n\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"How_You_Can_Identify_if_Your_Child_Has_Severe_Combined_Immunodeficiency_SCID\"><\/span><strong>C\u00f3mo identificar si su hijo tiene inmunodeficiencia combinada grave (IDCG)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Los signos y s\u00edntomas de la IDCG suelen aparecer entre los 3 y los 6 meses de edad y generalmente incluyen infecciones respiratorias frecuentes, candidiasis com\u00fan, diarrea cr\u00f3nica y neumon\u00eda f\u00fangica. Otros s\u00edntomas notables pueden incluir:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Erupciones<\/li>\n\n\n\n<li>Infecciones de o\u00eddo<\/li>\n\n\n\n<li>Crecimiento lento<\/li>\n\n\n\n<li>Problemas para ganar peso<\/li>\n\n\n\n<li>Infecciones que no responden bien a los antibi\u00f3ticos<\/li>\n\n\n\n<li>Candidiasis recurrente (infecci\u00f3n por hongos) en la boca<\/li>\n<\/ul>\n\n\n\n<p>Si su hijo presenta los s\u00edntomas mencionados anteriormente, especialmente neumon\u00eda f\u00fangica, consulte de inmediato a su proveedor de atenci\u00f3n m\u00e9dica para que le realice pruebas gen\u00e9ticas y detecci\u00f3n de SCID.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Is_the_Diagnosis_Procedure_for_Severe_Combined_Immunodeficiency_SCID\"><\/span><strong>\u00bfCu\u00e1l es el procedimiento de diagn\u00f3stico de la inmunodeficiencia combinada grave (SCID)?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>El diagn\u00f3stico y la detecci\u00f3n precoces de la IDCG pueden aumentar la tasa de \u00e9xito en la lucha contra esta enfermedad. Un profesional de la salud realiza una prueba de sangre mediante punci\u00f3n en el tal\u00f3n para verificar el nivel de c\u00e9lulas T y anticuerpos en el organismo del ni\u00f1o.&nbsp;<\/p>\n\n\n\n<p>Dependiendo de los resultados de los an\u00e1lisis de sangre, se pueden realizar m\u00e1s pruebas para comprobar los marcadores gen\u00e9ticos de SCID mediante pruebas gen\u00e9ticas.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"How_Is_SCID_Treated\"><\/span><strong>\u00bfC\u00f3mo se trata la SCID?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>La IDCG es una afecci\u00f3n grave que requiere tratamiento pedi\u00e1trico de emergencia inmediato. Sin tratamiento, los ni\u00f1os con IDCG no sobreviven m\u00e1s all\u00e1 del primer a\u00f1o de vida. Sin embargo, el tratamiento temprano puede mejorar significativamente el pron\u00f3stico. A continuaci\u00f3n, se presentan algunas de las opciones de tratamiento disponibles actualmente para la IDCG:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Bone_Marrow_Transplant\"><\/span><strong>Trasplante de m\u00e9dula \u00f3sea<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>El trasplante de m\u00e9dula \u00f3sea es un tratamiento est\u00e1ndar y eficaz para beb\u00e9s con IDCG. En este procedimiento, se trasplantan c\u00e9lulas madre hematopoy\u00e9ticas (tambi\u00e9n conocidas como hematopoy\u00e9ticas) de la m\u00e9dula \u00f3sea de donantes compatibles a pacientes con IDCG. Esto reconstituye el sistema inmunitario de los pacientes con IDCG y les permite desarrollar un sistema inmunitario funcional.<\/p>\n\n\n\n<p>El donante para trasplantes de m\u00e9dula \u00f3sea podr\u00eda ser un familiar cercano, como hermanos sanos o padres. Sin embargo, en la mayor\u00eda de los casos, los pacientes no tienen donantes hermanos compatibles, por lo que a menudo se realizan trasplantes de donantes compatibles no emparentados, lo que tiene una tasa de \u00e9xito menor que la de un donante emparentado compatible.&nbsp;<\/p>\n\n\n\n<p>Adem\u00e1s, el trasplante temprano de m\u00e9dula \u00f3sea suele ofrecer los mejores resultados para los beb\u00e9s con IDCG. Por ejemplo, los investigadores examinaron datos de 240 beb\u00e9s con IDCG y descubrieron que, independientemente del tipo de donante de c\u00e9lulas madre, <a href=\"https:\/\/www.niaid.nih.gov\/diseases-conditions\/severe-combined-immunodeficiency-scid#:~:text=Severe%20combined%20immunodeficiency%20(SCID)%20is,highly%20susceptible%20to%20severe%20infections.\">Los beb\u00e9s que recibieron trasplantes antes de los 3,5 meses de edad tuvieron la mayor probabilidad de supervivencia<\/a>.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Enzyme_Replacement_Therapy\"><\/span><strong>Terapia de reemplazo enzim\u00e1tico<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>La terapia de reemplazo enzim\u00e1tico (TRE), como la PEG-ADA, es una opci\u00f3n de tratamiento para beb\u00e9s con inmunodeficiencia combinada grave (IDCG) por deficiencia de ADA. En esta terapia, se inyecta regularmente un medicamento para tratar la deficiencia de ADA. Esta terapia ayuda a prevenir infecciones frecuentes, restaurar la funci\u00f3n inmunitaria y, indirectamente, favorece el crecimiento infantil al promover una mejor salud general.&nbsp;<\/p>\n\n\n\n<p>Sin embargo, la TRE es s\u00f3lo una opci\u00f3n de tratamiento temporal y se utiliza hasta que el paciente encuentre un donante de c\u00e9lulas madre para el trasplante.&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Gene_Therapy\"><\/span><strong>Terapia g\u00e9nica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.niaid.nih.gov\/diseases-conditions\/severe-combined-immunodeficiency-scid#:~:text=Severe%20combined%20immunodeficiency%20(SCID)%20is,highly%20susceptible%20to%20severe%20infections.\">Terapia gen\u00e9tica<\/a> Puede ser un tratamiento eficaz para algunos SCID ligados al cromosoma X. Tambi\u00e9n es una opci\u00f3n para los beb\u00e9s con SCID que no son elegibles para trasplantes de c\u00e9lulas madre o no pueden encontrar el donante adecuado.&nbsp;<\/p>\n\n\n\n<p>En este procedimiento, el profesional de la salud obtiene las c\u00e9lulas madre del ni\u00f1o con IDCG y reemplaza el gen defectuoso por uno normal en el laboratorio. Posteriormente, las c\u00e9lulas madre con el nuevo gen sano se insertan nuevamente en la m\u00e9dula \u00f3sea del ni\u00f1o con IDCG.&nbsp;<\/p>\n\n\n\n<p>La terapia gen\u00e9tica es experimental y todav\u00eda se encuentra en la fase de ensayos cl\u00ednicos en EE. UU.&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\"><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Intravenous_Immunoglobulin_IVIG\"><\/span><strong>Inmunoglobulina intravenosa (IVIG)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/ivig\/\/ivig\/\">IgIV<\/a> La terapia es otra opci\u00f3n de tratamiento eficaz para beb\u00e9s con IDCG para controlar las posibilidades de infecciones recurrentes. La IgIV proporciona una amplia gama de <a href=\"https:\/\/ameripharmaspecialty.com\/es\/ivig\/ivig\/\/immunoglobulins-ig\/\">anticuerpos<\/a> para pacientes con SCID que refuerzan el sistema inmunol\u00f3gico y ayudan a sus cuerpos a combatir infecciones.&nbsp;<\/p>\n\n\n\n<div  id=\"call-to-action-7c307a3f3c6b5b63a92bace01e549868\" style=\"\" class=\"ct_call_to_action\">\n\t<div class=\"container\">\n\t\t<div class=\"block-wrap cta\">\n\t\t\t<div class=\"block-column\">\n\t\t\t\t<div class=\"cta_headings\">\n\t\t\t\t\t\t\t\t\t\t\t<h4 class=\"cta__heading\">\n\t\t\t\t\t\t\tConsulte a un especialista en IgIV\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<span class=\"cta_btn\">\n\t\t\t\t\t\t<a href=\"tel:8777780318\">(877) 778-0318<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t<\/div>\n\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Takeaway\"><\/span><strong>Llevar<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>La IDCG es un trastorno gen\u00e9tico poco com\u00fan pero grave que puede ser mortal, incluso con infecciones comunes, si no se diagnostica y trata durante el primer a\u00f1o de vida. La terapia g\u00e9nica, la inmunoglobulina intravenosa (IVIG), la terapia de reemplazo enzim\u00e1tico y los trasplantes de m\u00e9dula \u00f3sea son tratamientos disponibles para ayudar a su hijo a llevar una vida saludable. Consulte con su profesional de la salud si desea realizarle pruebas gen\u00e9ticas o si tiene alguna inquietud sobre la salud de su hijo.<\/p>","protected":false},"excerpt":{"rendered":"<p>Severe combined immunodeficiency (SCID) is a rare but severe type of primary immunodeficiency disorder that appears in infancy (age 6 months or earlier). Children born with SCID have an incredibly weak immune system.<\/p>","protected":false},"author":26,"featured_media":26579,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"om_disable_all_campaigns":false,"_uag_custom_page_level_css":"","footnotes":""},"categories":[7],"tags":[32],"class_list":["post-26578","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ivig","tag-dr-robert-hakim"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Severe Combined Immunodeficiency (SCID): A Rare, Life-Threatening Disorder in Infants<\/title>\n<meta name=\"description\" content=\"Learn about severe combined immunodeficiency (SCID). 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