{"id":65051,"date":"2026-05-20T12:00:00","date_gmt":"2026-05-20T10:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2026\/05\/20\/autoimmune-retinopathy-complicating-tlr7-related-monogenic-interferonopathy\/"},"modified":"2026-05-20T12:00:00","modified_gmt":"2026-05-20T10:00:00","slug":"autoimmune-retinopathy-complicating-tlr7-related-monogenic-interferonopathy","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2026\/05\/20\/autoimmune-retinopathy-complicating-tlr7-related-monogenic-interferonopathy\/","title":{"rendered":"Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2026 May 20. doi: 10.1007\/s10875-026-02033-x. Online ahead of print.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including systemic lupus erythematosus (SLE)-like disease, neuromyelitis optica, and progressive leukoencephalopathy. The p.(Leu528Ile) variant has previously been shown to underlie this constellation of findings. Here, we report the extended follow-up of a previously described young female patient with TLR7-related interferonopathy, who developed non-paraneoplastic autoimmune retinopathy following a failed attempt to taper her systemic immunomodulatory therapy. This case expands the phenotypic spectrum of TLR7-related disease and highlights a potential link between interferon-driven immune dysregulation and autoimmune retinal pathology.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/42159815\/?utm_source=SimplePie&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20260520132503&amp;v=2.20.0\">42159815<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-026-02033-x\">10.1007\/s10875-026-02033-x<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2026 May 20. doi: 10.1007\/s10875-026-02033-x. Online ahead of print. ABSTRACT Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including systemic lupus erythematosus (SLE)-like disease, neuromyelitis optica, and progressive leukoencephalopathy. The p.(Leu528Ile) variant has previously been shown to underlie this constellation of findings. Here, we report &#8230; <a title=\"Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2026\/05\/20\/autoimmune-retinopathy-complicating-tlr7-related-monogenic-interferonopathy\/\" aria-label=\"Read more about Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy\">Read more<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[69,42],"tags":[],"class_list":["post-65051","post","type-post","status-publish","format-standard","hentry","category-journal-of-clinical-immunology","category-publicaciones"],"_links":{"self":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/65051","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/comments?post=65051"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/65051\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=65051"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=65051"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=65051"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}