{"id":59,"date":"2010-11-12T19:31:13","date_gmt":"2010-11-12T19:31:13","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=59"},"modified":"2010-11-12T19:33:14","modified_gmt":"2010-11-12T19:33:14","slug":"adult-onset-hereditary-pulmonary-alveolar-proteinosis-caused-by-a-single-base-deletion-in-csf2rb","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2010\/11\/12\/adult-onset-hereditary-pulmonary-alveolar-proteinosis-caused-by-a-single-base-deletion-in-csf2rb\/","title":{"rendered":"Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB"},"content":{"rendered":"<p>Disruption of granulocyte\/macrophage colony-stimulating factor (GM-CSF) signaling causes pulmonary alveolar proteinosis (PAP) characterized by excessive accumulation of surfactant in the lung. To date, adult-onset congenital PAP has not been reported. We found the first adult-onset patient with GM-CSF-R\u03b2c deficiency, diagnosed as PAP pathologically at age 36. She had diminished GM-CSF-dependent signaling and functions in leukocytes and homozygous, one-base deletion in the exon 6 of <em>CSF2RB<\/em> of chromosome 22, which was inherited in autosomal recessive manner from both parents who were second cousins.The results suggested that GM-CSF signaling was compensated by other factor(s), preventing from development of PAP for many years. (By Dr. Koh Nakata, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2010\/11\/11\/jmg.2010.082586.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2010\/11\/11\/jmg.2010.082586.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Disruption of granulocyte\/macrophage colony-stimulating factor (GM-CSF) signaling causes pulmonary alveolar proteinosis (PAP) characterized by excessive accumulation of surfactant in the lung. To date, adult-onset congenital PAP has not been reported. We found the first adult-onset patient with GM-CSF-R\u03b2c deficiency, diagnosed as PAP pathologically at age 36. She had diminished GM-CSF-dependent signaling and functions in leukocytes [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2010\/11\/12\/adult-onset-hereditary-pulmonary-alveolar-proteinosis-caused-by-a-single-base-deletion-in-csf2rb\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-59","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/59","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=59"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/59\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=59"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=59"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=59"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}