{"id":54899,"date":"2026-02-02T12:00:00","date_gmt":"2026-02-02T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2026\/02\/02\/follicular-helper-t-cells-and-b-cell-maturation-in-patients-with-22q11-2-deletion-syndrome-and-recurrent-infections\/"},"modified":"2026-02-02T12:00:00","modified_gmt":"2026-02-02T11:00:00","slug":"follicular-helper-t-cells-and-b-cell-maturation-in-patients-with-22q11-2-deletion-syndrome-and-recurrent-infections","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2026\/02\/02\/follicular-helper-t-cells-and-b-cell-maturation-in-patients-with-22q11-2-deletion-syndrome-and-recurrent-infections\/","title":{"rendered":"Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections"},"content":{"rendered":"<div>\n<p><b>J Clin Immunol<\/b>. 2026 Feb 3. doi: 10.1007\/s10875-026-01987-2. Online ahead of print.<\/p>\n<p><b>ABSTRACT<\/b><\/p>\n<p>PURPOSE: 22q11.2 Deletion Syndrome has been primarily described as a disorder of T cell production secondary to thymic hypoplasia. However, there is great complexity in the clinical picture with infections, autoimmunity, and inflammation occurring. Emerging evidence suggests that qualitative T cell dysfunction occurs, and the goal of this study was to utilize single-cell RNA-seq to better define altered gene expression patterns to inform on the mechanisms associated with recurrent infections.<\/p>\n<p>METHODS: We utilized single-cell RNA-seq to define distinct populations in 22q11.2 Deletion Syndrome (N = 13) and controls (N = 11) as well as within a subcohort of patients with 22q11.2 Deletion Syndrome and recurrent infections.<\/p>\n<p>RESULTS: When we analyzed differentially expressed genes, we identified a signature of type I interferons across all cell types. Within the T cell compartment, and particularly within the follicular helper T cells, we identified a senescence signature. The alterations found in T cells were most substantial in the patients with recurrent infection.<\/p>\n<p>CONCLUSIONS: While T cell numbers can often normalize in patients with 22q11.2 Deletion Syndrome, our data indicate significantly altered function as defined by differentially expressed genes and aligned with what is known about T cell senescence. The effect was greatest in the patients with recurrent infection. This would be expected to impact T cell function and may account for ongoing symptoms, reduced B cell maturation, and possibly the risk of immune dysregulation.<\/p>\n<p>PMID:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/41629437\/?utm_source=SimplePie&amp;utm_medium=rss&amp;utm_campaign=journals&amp;utm_content=8102137&amp;ff=20260203002705&amp;v=2.18.0.post22+67771e2\">41629437<\/a> | DOI:<a href=\"https:\/\/doi.org\/10.1007\/s10875-026-01987-2\">10.1007\/s10875-026-01987-2<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>J Clin Immunol. 2026 Feb 3. doi: 10.1007\/s10875-026-01987-2. Online ahead of print. ABSTRACT PURPOSE: 22q11.2 Deletion Syndrome has been primarily described as a disorder of T cell production secondary to thymic hypoplasia. However, there is great complexity in the clinical picture with infections, autoimmunity, and inflammation occurring. Emerging evidence suggests that qualitative T cell dysfunction &#8230; <a title=\"Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections\" class=\"read-more\" href=\"https:\/\/inmuno.es\/index.php\/2026\/02\/02\/follicular-helper-t-cells-and-b-cell-maturation-in-patients-with-22q11-2-deletion-syndrome-and-recurrent-infections\/\" aria-label=\"Read more about Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections\">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-54899","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\/54899","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=54899"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/54899\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=54899"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=54899"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=54899"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}