{"id":34074,"date":"2025-06-03T12:00:00","date_gmt":"2025-06-03T10:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/06\/03\/clinical-and-immunological-features-of-a-large-digeorge-syndrome-cohort\/"},"modified":"2025-06-03T12:00:00","modified_gmt":"2025-06-03T10:00:00","slug":"clinical-and-immunological-features-of-a-large-digeorge-syndrome-cohort","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/06\/03\/clinical-and-immunological-features-of-a-large-digeorge-syndrome-cohort\/","title":{"rendered":"Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort"},"content":{"rendered":"
\n

J Clin Immunol<\/b>. 2025 Jun 3;45(1):103. doi: 10.1007\/s10875-025-01884-0.<\/p>\n

ABSTRACT<\/b><\/p>\n

BACKGROUND: DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency.<\/p>\n

AIM: To define the clinical\/immunophenotypical biomarkers for DGS.<\/p>\n

PATIENTS AND METHODS: A total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria without deletion (n = 6) were enrolled.<\/p>\n

RESULTS: The male\/female ratio was 41\/31. Median age at clinical diagnosis was 1.7 years (0 days-22 years) with follow-up for 21.7 months (0 days-17.3 years). Common evaluation reasons were cardiac features (30.6%), failure to thrive (15.3%), and neurological features (15.3%). Craniofacial dysmorphism (64\/66, 97%), central nervous system findings (62\/72, 86.1%), and congenital cardiovascular defect (43\/70, 61.4%) were common. We noted lymphopenia (30\/72, 41.7%) and low IgM (25\/69, 36.2%). T helper cell counts were low in 49.3% (33\/67). T cytotoxic and NK cell counts were normal\/high in 80.6% (54\/67) and 97% (65\/67) of patients, respectively. 42.3% (11\/26) had low CD4 + TEMRA, and 34.6% (9\/26) had low CD8 + TEM percentages. None had low CD8 + TEMRA. B cells were normal\/high (52\/67, 77.6%). 30.8%(8\/26) had low switched-memory and 38.5% (10\/26) had low active B cell percentages. Low IgA levels were associated with decreased lymphocyte activation and recent thymic emigrant (RTE) cell percentages. Six(8.3%) patients with lymphopenia, three of whom had congenital athymia, died.<\/p>\n

CONCLUSION: CD4 lymphopenia was more common than CD8 lymphopenia. Normal\/high CD8 + and NK cell counts were remarkable. Increased CD8+ TEMRA cells seem to indicate peripheral homeostatic proliferation following viral infections. Low serum IgA correlated with low RTE% and impaired T-cell function. DGS severity markers include hypocalcemia, congenital cardiac anomaly, and T-cell lymphopenia.<\/p>\n

PMID:40461840<\/a> | DOI:10.1007\/s10875-025-01884-0<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

J Clin Immunol. 2025 Jun 3;45(1):103. doi: 10.1007\/s10875-025-01884-0. ABSTRACT BACKGROUND: DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency. AIM: To define the clinical\/immunophenotypical biomarkers for DGS. PATIENTS AND METHODS: A total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria … 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-34074","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\/34074","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=34074"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/34074\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=34074"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=34074"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=34074"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}