{"id":132,"date":"2011-04-23T05:59:26","date_gmt":"2011-04-23T05:59:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/"},"modified":"2026-02-25T21:11:22","modified_gmt":"2026-02-25T21:11:22","slug":"foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/","title":{"rendered":"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD)"},"content":{"rendered":"<p>For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance.<\/p>\n<p>The disease caused by this alteration, called Nude\/SCID, is the first severe immunodeficiency related to abnormalities of a protein not expressed in blood cells but in the thymus, the organ which educates the lymphocytes to recognize foreign molecules, called \u201cnon-self antigens\u201d.<\/p>\n<p>This discovery opens an important window for future therapies in some genetic immunodeficiencies. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/04\/15\/jmg.2011.089532.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/04\/15\/jmg.2011.089532.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance. The disease caused by this alteration, called Nude\/SCID, is the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-132","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance. The disease caused by this alteration, called Nude\/SCID, is the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-04-23T05:59:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T21:11:22+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD)\",\"datePublished\":\"2011-04-23T05:59:26+00:00\",\"dateModified\":\"2026-02-25T21:11:22+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/04\\\/23\\\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\\\/\",\"name\":\"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/04\/23\/foxn1-mutation-abrogates-prenatal-t-cell-development-in-humans\/","og_locale":"en_US","og_type":"article","og_title":"FOXN1 mutation abrogates prenatal T-cell development in humans (Contributed by Claudio Pignata, MD) - JMG Contact blog","og_description":"For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance. 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