{"id":19773,"date":"2024-11-24T12:00:00","date_gmt":"2024-11-24T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2024\/11\/24\/inborn-error-of-was-presenting-with-sars-cov-2-related-multisystem-inflammatory-syndrome-in-children\/"},"modified":"2024-11-24T12:00:00","modified_gmt":"2024-11-24T11:00:00","slug":"inborn-error-of-was-presenting-with-sars-cov-2-related-multisystem-inflammatory-syndrome-in-children","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2024\/11\/24\/inborn-error-of-was-presenting-with-sars-cov-2-related-multisystem-inflammatory-syndrome-in-children\/","title":{"rendered":"Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children"},"content":{"rendered":"<div>\n<p>J Clin Immunol. 2024 Nov 25;45(1):49. doi: 10.1007\/s10875-024-01840-4.<\/p>\n<p>ABSTRACT<\/p>\n<p>Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the involved inflammatory pathways. Genetic analysis revealed a frameshift truncating variant in the WAS gene, resulting in WAS protein expression between mild and severe forms, despite a clinical phenotype resembling X-linked thrombocytopenia (XLT). IL-1\u03b2 secretion by LPS-stimulated peripheral blood mononuclear cells from patient during MIS-C was lower compared to healthy subjects but increased during follow-up. Conversely, the percentage of ASC (apoptosis-associated speck-like protein containing a CARD) specks in the patient&#8217;s circulating monocytes during the acute phase was higher than in healthy subjects. The type I interferon (IFN) signature during MIS-C was normal, in contrast to the raised IFN signature measured far from the acute event. This case supports the association of IEI with MIS-C, potentially linked to delayed immune responses to SARS-CoV-2. The XLT phenotype underlies a subclinical immunodysregulation involving the NLRP3 inflammasome and the type-I IFN response.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39581942\/?utm_source=WordPress&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20241125015907&amp;v=2.18.0.post9+e462414\">39581942<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-024-01840-4\">10.1007\/s10875-024-01840-4<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2024 Nov 25;45(1):49. doi: 10.1007\/s10875-024-01840-4. ABSTRACT Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the &#8230; <a title=\"Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2024\/11\/24\/inborn-error-of-was-presenting-with-sars-cov-2-related-multisystem-inflammatory-syndrome-in-children\/\" aria-label=\"Read more about Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children\">Read more<\/a><\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[69,42],"tags":[],"class_list":["post-19773","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\/19773","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"}],"replies":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/comments?post=19773"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/19773\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=19773"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=19773"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=19773"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}