{"id":49524,"date":"2025-11-25T12:00:00","date_gmt":"2025-11-25T11:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/11\/25\/natural-history-of-swiss-infants-with-non-scid-t-cell-lymphopenia-detected-by-newborn-screening-a-cohort-study\/"},"modified":"2025-11-25T12:00:00","modified_gmt":"2025-11-25T11:00:00","slug":"natural-history-of-swiss-infants-with-non-scid-t-cell-lymphopenia-detected-by-newborn-screening-a-cohort-study","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/11\/25\/natural-history-of-swiss-infants-with-non-scid-t-cell-lymphopenia-detected-by-newborn-screening-a-cohort-study\/","title":{"rendered":"Natural History of Swiss Infants with Non-SCID T-cell Lymphopenia Detected by Newborn Screening: A Cohort Study"},"content":{"rendered":"
\n

J Clin Immunol<\/b>. 2025 Nov 25;45(1):166. doi: 10.1007\/s10875-025-01945-4.<\/p>\n

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

BACKGROUND: Newborn screening (NBS) by quantification of T-cell receptor excision circles (TREC) identifies a considerable number of infants with T-cell lymphopenia (TCL) other than severe combined immunodeficiency (SCID). While some of these children have well-defined inborn errors of immunity (IEI), many lack a clear genetic diagnosis, complicating their management and causing prognostic uncertainty.<\/p>\n

OBJECTIVE: To characterize the natural history of non-SCID TCL detected through NBS in Swiss infants between 2019 and 2023.<\/p>\n

METHODS: Clinical, genetic and laboratory data from all non-SCID TCL cases were extracted from the national NBS registry and analyzed.<\/p>\n

RESULTS: Out of 435 985 screened infants, 42 patients were identified with non-SCID, non-congenital athymia TCL, without an obvious secondary cause. A clear genetic diagnosis of IEI was established in 20 (48%) patients. Infants with confirmed IEI had significantly lower total T-cell, CD4 + T-cell and recent thymic emigrant (RTE) counts on initial lymphocyte phenotyping. In contrast, those with an unclear genetic diagnosis despite full investigations demonstrated faster normalization of total T-cell counts (hazard ratio 5.2, 95% CI 1.9 to 14.5, p = 0.001). All infants with initial CD4 + T-cell < 0.3 \u00d7 109<\/sup>\/L showed minimal recovery of T-cell counts and remained on long-term prophylactic measures. All infants with an unclear genetic diagnosis despite investigations were able to discontinue prophylaxis at median age 6 months without experiencing opportunistic or severe infections.<\/p>\n

CONCLUSION: Infants with non-SCID TCL identified by NBS represent a heterogenous group, ranging from severe, persistent TCL to mild, transient lymphopenia. Management should be tailored based on individual immunological and genetic profiles.<\/p>\n

PMID:41288825<\/a> | DOI:10.1007\/s10875-025-01945-4<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

J Clin Immunol. 2025 Nov 25;45(1):166. doi: 10.1007\/s10875-025-01945-4. ABSTRACT BACKGROUND: Newborn screening (NBS) by quantification of T-cell receptor excision circles (TREC) identifies a considerable number of infants with T-cell lymphopenia (TCL) other than severe combined immunodeficiency (SCID). While some of these children have well-defined inborn errors of immunity (IEI), many lack a clear genetic diagnosis, … 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-49524","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\/49524","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=49524"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/49524\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=49524"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=49524"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=49524"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}