{"id":1597,"date":"2021-01-26T23:02:31","date_gmt":"2021-01-26T23:02:31","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1597"},"modified":"2026-02-23T23:08:41","modified_gmt":"2026-02-23T23:08:41","slug":"ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/01\/26\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\/","title":{"rendered":"DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation (Contributed by Dr. Lev Prasov)"},"content":{"rendered":"<p>Very few families with mutations in\u00a0<em>DDX58<\/em>\u00a0(RIG-I), an innate immune sensor, have been described with a multisystem disorder featuring blood vessel calcium deposition, a skin rash, and childhood glaucoma. Here, we have identified two unrelated families that share a rare variant in\u00a0<em>DDX58<\/em>, and showed that it causes disease by a gain-of-function mechanism and tissue specific effects.\u00a0 We demonstrate that some family members carrying this mutation only have the most common feature of childhood glaucoma, while others have more extensive syndromic features. We further provide the first complete molecular and histologic description of the skin findings in this disorder. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/01\/24\/jmedgenet-2020-107447\">https:\/\/jmg.bmj.com\/content\/early\/2021\/01\/24\/jmedgenet-2020-107447<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/01\/26\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\/untitled-43\/\" rel=\"attachment wp-att-1598\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1598\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-300x187.png\" alt=\"\" width=\"300\" height=\"187\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-300x187.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-1024x639.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-768x479.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-1536x959.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1-640x400.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1.png 1879w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Very few families with mutations in\u00a0DDX58\u00a0(RIG-I), an innate immune sensor, have been described with a multisystem disorder featuring blood vessel calcium deposition, a skin rash, and childhood glaucoma. Here, we have identified two unrelated families that share a rare variant in\u00a0DDX58, and showed that it causes disease by a gain-of-function mechanism and tissue specific effects.\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/01\/26\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\/\">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-1597","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>DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation (Contributed by Dr. Lev Prasov) - 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\/2021\/01\/26\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation (Contributed by Dr. Lev Prasov) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Very few families with mutations in\u00a0DDX58\u00a0(RIG-I), an innate immune sensor, have been described with a multisystem disorder featuring blood vessel calcium deposition, a skin rash, and childhood glaucoma. Here, we have identified two unrelated families that share a rare variant in\u00a0DDX58, and showed that it causes disease by a gain-of-function mechanism and tissue specific effects.\u00a0 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/01\/26\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-01-26T23:02:31+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:08:41+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/01\/Untitled-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1879\" \/>\n\t<meta property=\"og:image:height\" content=\"1173\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation (Contributed by Dr. Lev Prasov)\",\"datePublished\":\"2021-01-26T23:02:31+00:00\",\"dateModified\":\"2026-02-23T23:08:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/\"},\"wordCount\":124,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/01\\\/Untitled-1-300x187.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/01\\\/26\\\/ddx58rig-i-related-disease-is-associated-with-tissue-specific-interferon-pathway-activation\\\/\",\"name\":\"DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation (Contributed by Dr. Lev Prasov) - 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