{"id":64847,"date":"2026-05-18T12:00:00","date_gmt":"2026-05-18T10:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2026\/05\/18\/genetic-diagnosis-and-identification-of-a-novel-de-novo-rela-variant-in-familial-behcet-like-autoinflammatory-syndrome-type-3-a-case-report\/"},"modified":"2026-05-18T12:00:00","modified_gmt":"2026-05-18T10:00:00","slug":"genetic-diagnosis-and-identification-of-a-novel-de-novo-rela-variant-in-familial-behcet-like-autoinflammatory-syndrome-type-3-a-case-report","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2026\/05\/18\/genetic-diagnosis-and-identification-of-a-novel-de-novo-rela-variant-in-familial-behcet-like-autoinflammatory-syndrome-type-3-a-case-report\/","title":{"rendered":"Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Beh\u00e7et-like Autoinflammatory Syndrome Type 3: A Case Report"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2026 May 19. doi: 10.1007\/s10875-026-02026-w. Online ahead of print.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>OBJECTIVE: To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Beh\u00e7et-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant.<\/p>\n<p>METHODS: Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation sequencing (NGS), and Sanger sequencing for familial validation.<\/p>\n<p>RESULTS: A de novo heterozygous RELA variant (NM_021975.4:c.539 C &gt; T, p.Ser180Phe) was identified in the proband. Parental testing confirmed its de novo origin.<\/p>\n<p>CONCLUSION: The RELA c.539 C &gt; T variant was classified as likely pathogenic for AIFBL3, providing a basis for genetic counseling. In future pregnancies, prenatal diagnosis through targeted familial mutation analysis could be offered to this family to inform reproductive decision-making.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/42151600\/?utm_source=SimplePie&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20260519012528&amp;v=2.20.0\">42151600<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-026-02026-w\">10.1007\/s10875-026-02026-w<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2026 May 19. doi: 10.1007\/s10875-026-02026-w. Online ahead of print. ABSTRACT OBJECTIVE: To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Beh\u00e7et-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant. METHODS: Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation &#8230; <a title=\"Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Beh\u00e7et-like Autoinflammatory Syndrome Type 3: A Case Report\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2026\/05\/18\/genetic-diagnosis-and-identification-of-a-novel-de-novo-rela-variant-in-familial-behcet-like-autoinflammatory-syndrome-type-3-a-case-report\/\" aria-label=\"Read more about Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Beh\u00e7et-like Autoinflammatory Syndrome Type 3: A Case Report\">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-64847","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\/64847","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=64847"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/64847\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=64847"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=64847"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=64847"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}