{"id":21280,"date":"2025-01-03T12:00:00","date_gmt":"2025-01-03T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/01\/03\/novel-inherited-n-terminus-tap1-variants-and-severe-clinical-manifestations-are-genotype-phenotype-correlations-emerging\/"},"modified":"2025-01-03T12:00:00","modified_gmt":"2025-01-03T11:00:00","slug":"novel-inherited-n-terminus-tap1-variants-and-severe-clinical-manifestations-are-genotype-phenotype-correlations-emerging","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/01\/03\/novel-inherited-n-terminus-tap1-variants-and-severe-clinical-manifestations-are-genotype-phenotype-correlations-emerging\/","title":{"rendered":"Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2025 Jan 3;45(1):63. doi: 10.1007\/s10875-024-01856-w.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age. A novel frameshift termination variant near the protein&#8217;s amino (N-) terminal was found. Variants in exon 1 of the TAP1 gene (as in our case) have not been reported previously. We also perform a brief review of TAP1D that hints at potential genotype-phenotype correlations. However, these findings need to be interpreted with due prudence given the small number of patients with TAP1D reported thus far.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39751995\/?utm_source=WordPress&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20250103130057&amp;v=2.18.0.post9+e462414\">39751995<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-024-01856-w\">10.1007\/s10875-024-01856-w<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2025 Jan 3;45(1):63. doi: 10.1007\/s10875-024-01856-w. ABSTRACT Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and &#8230; <a title=\"Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2025\/01\/03\/novel-inherited-n-terminus-tap1-variants-and-severe-clinical-manifestations-are-genotype-phenotype-correlations-emerging\/\" aria-label=\"Read more about Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?\">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-21280","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\/21280","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=21280"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/21280\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=21280"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=21280"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=21280"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}