{"id":18317,"date":"2024-10-15T12:00:00","date_gmt":"2024-10-15T10:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2024\/10\/15\/disseminated-aspergillosis-in-x-linked-agammaglobulinemia-beyond-the-norm\/"},"modified":"2024-10-15T12:00:00","modified_gmt":"2024-10-15T10:00:00","slug":"disseminated-aspergillosis-in-x-linked-agammaglobulinemia-beyond-the-norm","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2024\/10\/15\/disseminated-aspergillosis-in-x-linked-agammaglobulinemia-beyond-the-norm\/","title":{"rendered":"Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm"},"content":{"rendered":"<div>\n<p>J Clin Immunol. 2024 Oct 15;45(1):24. doi: 10.1007\/s10875-024-01815-5.<\/p>\n<p>ABSTRACT<\/p>\n<p>X-linked agammaglobulinemia (XLA) due to a mutation in Bruton&#8217;s tyrosine kinase (BTK), leads to the arrested development of B cells at the pro-B cell stage. This results in absent B cells and severe hypogammaglobulinemia. XLA patients usually present with recurrent sinopulmonary infection. Bacterial infections are the commonest [2], fungal infections like Pneumocystis jirovecii, Aspergillus and Candida species are rarely reported and they are associated with mortality in XLA [3]. We report a 3.5-year-old boy with disseminated aspergillosis, an uncommon presentation of XLA. Despite treatment with antifungals, including voriconazole and amphotericin B, the patient succumbed to the illness. Genetic analysis revealed a pathogenic variant in the BTK gene (R28H), confirming XLA diagnosis. This case highlights the potential for severe fungal infections in XLA patients and suggests broader immune system dysregulation beyond B-cell defects.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39404906\/?utm_source=WordPress&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20241016044856&amp;v=2.18.0.post9+e462414\">39404906<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-024-01815-5\">10.1007\/s10875-024-01815-5<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2024 Oct 15;45(1):24. doi: 10.1007\/s10875-024-01815-5. ABSTRACT X-linked agammaglobulinemia (XLA) due to a mutation in Bruton&#8217;s tyrosine kinase (BTK), leads to the arrested development of B cells at the pro-B cell stage. This results in absent B cells and severe hypogammaglobulinemia. XLA patients usually present with recurrent sinopulmonary infection. Bacterial infections are the &#8230; <a title=\"Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2024\/10\/15\/disseminated-aspergillosis-in-x-linked-agammaglobulinemia-beyond-the-norm\/\" aria-label=\"Read more about Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm\">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-18317","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\/18317","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=18317"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/18317\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=18317"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=18317"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=18317"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}