{"id":11928,"date":"2021-04-06T11:38:41","date_gmt":"2021-04-06T09:38:41","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11928"},"modified":"2021-04-06T11:38:41","modified_gmt":"2021-04-06T09:38:41","slug":"gene-of-the-month-march-syk","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-syk\/","title":{"rendered":"Gene of the Month &#8211; March: SYK"},"content":{"rendered":"<p>Mutations in the <em>SYK<\/em> gene are responsible for a newly described phenotype with severe immunodeficiency, multi-organ inflammatory disease involving the intestines, liver, skin, joints and central nervous system, and a predisposition to B cell lymphoma. This is the result of an international study published in <em>Nature Genetics<\/em>. The researchers of the study found in six patients monoallelic missense mutations as the genetic cause of their condition. Subsequently, they further investigated one of the identified variants in a mouse model to elucidate its functional effects.<\/p>\n<p>Spleen tyrosine kinase, the protein encoded by the <em>SYK<\/em> gene, is an important molecule in immune signaling. Among other functions, SYK is needed for the proper development of B cells, which are responsible for the production of antibodies. In their study, the researchers explored one of the identified SYK variants and discovered that it caused a gain of protein function and led to constitutive activation of the signaling pathway and immune dysregulation. Interestingly, SYK-inhibiting molecules are already being used in the treatment of other disorders. The new insights into the function of SYK gained in this study might therefore aid in the development of new options to treat patients with immune dysregulation.<\/p>\n[vc_column_text] Wang L, Aschenbrenner D, Zeng Z, \u2026 Muise AM. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. <em>Nat Genet.<\/em> 2021 Mar 29. doi: 10.1038\/s41588-021-00803-4. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33782605&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Mutations in the SYK gene are responsible for a newly described phenotype with severe immunodeficiency, multi-organ inflammatory disease involving the intestines, liver, skin, joints and central nervous system, and a predisposition to B cell lymphoma. This is the result of an international study published in Nature Genetics. The researchers of the study found in six [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-11928","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - March: SYK - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Mutations in SYK are responsible for severe immunodeficiency, multi-organ inflammatory disease and predisposition to B cell lymphoma.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-syk\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - March: SYK - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Mutations in SYK are responsible for severe immunodeficiency, multi-organ inflammatory disease and predisposition to B cell lymphoma.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-syk\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2021-04-06T09:38:41+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\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:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-syk\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-syk\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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