{"id":1997,"date":"2009-12-26T11:36:26","date_gmt":"2009-12-26T16:36:26","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=1997"},"modified":"2009-12-26T11:42:54","modified_gmt":"2009-12-26T16:42:54","slug":"severe-combined-immunodeficiency-syndrome-scid","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/severe-combined-immunodeficiency-syndrome-scid\/","title":{"rendered":"Severe Combined Immunodeficiency Syndrome (SCID)"},"content":{"rendered":"<p><strong>Pathophysiology<\/strong><\/p>\n<p><strong>1)<\/strong> group of disorders characterized by severe immunodeficiency secondary to deficiency in both cell-mediated and humoral immune functions <strong>2)<\/strong> infections are associated with organisms that are not normally pathogenic thus these patients can not be immunized with live-attenuated vaccines<\/p>\n<p><strong>Signs and Symptoms<\/strong><\/p>\n<p><strong>1)<\/strong> chronic meningitis <strong>2)<\/strong> encephalitis <strong>3)<\/strong> dermatomyositis (rash, edema, and myositis) <strong>4)<\/strong> hepatitis <strong>5)<\/strong> Guillain-Barre syndrome<\/p>\n<p><strong>Associated Conditions<\/strong><\/p>\n<p>blood transfusions often cause fatal graft versus host disease<\/p>\n<p><strong>Biochemistry<\/strong><\/p>\n<p><strong>1)<\/strong> some forms are marked by mutations of receptors for T cell growth <strong>2)<\/strong> defective B and T cells <strong>3)<\/strong> defective IL-2 receptors <strong>4)<\/strong> aborted thymocyte differentiation<\/p>\n<p><strong>Inheritance\/Epidemiology<\/strong><\/p>\n<p>both X-linked (IL-2RG deficient types) and autosomal recessive (JAK-3 deficient types)<\/p>\n<p><strong>Treatment<\/strong><\/p>\n<p><strong>1)<\/strong> removal from nonhygienic environments <strong>2)<\/strong> long-term antibiotics <strong>3)<\/strong> gene therapy has shown promising initial results, but has been plagued by leukemia-like side effect of the adenovirus vector<\/p>\n<p><strong>Tips for USMLE<\/strong><\/p>\n<p><em>Known gene deficiencies<\/em> &#8211; <strong>1)<\/strong> recombinase-activating gene (RAG-1 and RAG-2) deficiency of 11p13 <strong>2)<\/strong> ADA deficiency on 20q13.11 <strong>3)<\/strong> interleukin 2 receptor gamma chain (IL-2Rgamma) deficiency on Xq13 <strong>4)<\/strong> Janus-associated kinase 3 (JAK3) deficiency on chromosome 19p13.1 <strong>5)<\/strong> DNA-dependent protein kinase (PK) deficiency on 8q11<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pathophysiology 1) group of disorders characterized by severe immunodeficiency secondary to deficiency in both cell-mediated and humoral immune functions 2) infections are associated with organisms that are not normally pathogenic thus these patients can not be immunized with live-attenuated vaccines Signs and Symptoms 1) chronic meningitis 2) encephalitis 3) dermatomyositis (rash, edema, and myositis) 4) [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[1],"tags":[604,605,603,606,608,609,607],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.5 - 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