{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T07:10:12Z","timestamp":1772521812763,"version":"3.50.1"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Cornelia de Lange Syndrome (CdLS) is a rare multisystem disorder characterized by craniofacial dysmorphism, growth restriction, limb anomalies, intellectual disability, and mild to moderate immune abnormalities. We present the case of a newborn female with CdLS who was found to have severe transient T-cell lymphopenia following abnormal newborn T-cell receptor excision circle (TREC) screening. She was treated with immunoglobulin replacement and antimicrobial prophylaxis. She experienced normalization of T cells and no severe infections over a two-year period. To our knowledge, this is the first detailed report of a case of CdLS presenting with profound T-cell lymphopenia identified by newborn screening, underscoring the utility of TREC screening in syndromic infants and the need for further study of immune defects in CdLS.<\/jats:p>","DOI":"10.3389\/fimmu.2026.1729053","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:48:59Z","timestamp":1772520539000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening"],"prefix":"10.3389","volume":"17","author":[{"given":"Hope","family":"Retif","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Louisiana State University Health Sciences Center","place":["New Orleans, LA, United States"]},{"name":"Manning Family Children\u2019s","place":["New Orleans, LA, United 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