{"id":331,"date":"2012-05-13T01:24:43","date_gmt":"2012-05-13T01:24:43","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=331"},"modified":"2026-02-25T20:36:41","modified_gmt":"2026-02-25T20:36:41","slug":"the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/05\/13\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\/","title":{"rendered":"The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Contributed by Eva d&#8217;Hennezel)"},"content":{"rendered":"<p>The immune system relies on a finely tuned balance between immunity to pathogens and cancers, and tolerance to healthy self, our environment and commensals. This equilibrium is dramatically disrupted in the Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare disorder is caused by mutations in the <em>FOXP3<\/em> gene, a master transcriptional regulator for the development of CD4<sup>+<\/sup> regulatory T (Treg) cells. IPEX usually presents in infancy, as multi-organ autoimmunity encompassing type-1-diabetes, anemia, chronic dermatitis and bowel inflammation, hepatitis and nephritis. In this review, we describe the genetic, immunological and clinical characteristics of IPEX syndrome and highlight the impact of heritable mutations on the function of Treg cells. (<a href=\"http:\/\/jmg.bmj.com\/content\/49\/5\/291\">http:\/\/jmg.bmj.com\/content\/49\/5\/291<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The immune system relies on a finely tuned balance between immunity to pathogens and cancers, and tolerance to healthy self, our environment and commensals. This equilibrium is dramatically disrupted in the Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare disorder is caused by mutations in the FOXP3 gene, a master transcriptional regulator for the development [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/05\/13\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\/\">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-331","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Contributed by Eva d&#039;Hennezel) - 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\/2012\/05\/13\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Contributed by Eva d&#039;Hennezel) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The immune system relies on a finely tuned balance between immunity to pathogens and cancers, and tolerance to healthy self, our environment and commensals. This equilibrium is dramatically disrupted in the Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare disorder is caused by mutations in the FOXP3 gene, a master transcriptional regulator for the development [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/05\/13\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-05-13T01:24:43+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:36:41+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\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Contributed by Eva d&#8217;Hennezel)\",\"datePublished\":\"2012-05-13T01:24:43+00:00\",\"dateModified\":\"2026-02-25T20:36:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/05\\\/13\\\/the-immunogenetics-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome\\\/\",\"name\":\"The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome (Contributed by Eva d'Hennezel) - 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