{"id":895,"date":"2016-06-01T18:33:52","date_gmt":"2016-06-01T18:33:52","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=895"},"modified":"2026-02-25T00:06:17","modified_gmt":"2026-02-25T00:06:17","slug":"genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/01\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\/","title":{"rendered":"Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (Contributed by Delfien Bogaert on behalf of all authors)"},"content":{"rendered":"<p>Common variable immunodeficiency (CVID) is an immune disorder characterized by low antibody levels and an increased susceptibility to infections and immune-related complications. It is a heterogeneous disorder with a variable clinical presentation and severity. Thus far, single gene defects have been identified in about 2-10% of patients. As more disease genes are being identified, it is becoming clear that CVID is an umbrella diagnosis and that many of these genetic defects cause separate disease entities. Moreover, it is thought that, in at least a subgroup of CVID patients, a single genetic defect does not suffice to develop the disease, meaning that additional genetic and\/or environmental factors are involved. This review provides an overview of disease genes implicated in CVID and discusses current evidence on a possible multifactorial origin of this disorder. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/01\/jmedgenet-2015-103690\">http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/01\/jmedgenet-2015-103690<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Common variable immunodeficiency (CVID) is an immune disorder characterized by low antibody levels and an increased susceptibility to infections and immune-related complications. It is a heterogeneous disorder with a variable clinical presentation and severity. Thus far, single gene defects have been identified in about 2-10% of patients. As more disease genes are being identified, it [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/01\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\/\">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-895","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (Contributed by Delfien Bogaert on behalf of all authors) - 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\/2016\/06\/01\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (Contributed by Delfien Bogaert on behalf of all authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Common variable immunodeficiency (CVID) is an immune disorder characterized by low antibody levels and an increased susceptibility to infections and immune-related complications. It is a heterogeneous disorder with a variable clinical presentation and severity. Thus far, single gene defects have been identified in about 2-10% of patients. As more disease genes are being identified, it [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/01\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-06-01T18:33:52+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:06:17+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\\\/2016\\\/06\\\/01\\\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/01\\\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genes associated with common variable immunodeficiency: one diagnosis to rule them all? 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(Contributed by Delfien Bogaert on behalf of all authors) - 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\/2016\/06\/01\/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all\/","og_locale":"en_US","og_type":"article","og_title":"Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (Contributed by Delfien Bogaert on behalf of all authors) - JMG Contact blog","og_description":"Common variable immunodeficiency (CVID) is an immune disorder characterized by low antibody levels and an increased susceptibility to infections and immune-related complications. It is a heterogeneous disorder with a variable clinical presentation and severity. Thus far, single gene defects have been identified in about 2-10% of patients. 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