CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening
Provisionally accepted
- 1Department of Pediatrics, LSU Health New Orleans, New Orleans, United States
- 2Manning Family Children’s, New Orleans, United States
- 3Division of Allergy and Immunology, Departments of Pediatrics and Medicine, Ochsner Medical Center, New Orleans, United States
- 4Department of Pediatrics, Tulane University School of Medicine, New Orleans, United States
- 5Hayward Genetics Center, New Orleans, United States
- 6Division of Allergy and Immunology, Departments of Pediatrics and Medicine, The University of Texas Southwestern Medical Center, Dallas, United States
- 7Division of Allergy and Immunology, Department of Pediatrics, LSU Health New Orleans, New Orleans, United States
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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.
Keywords: Cornelia de Lange syndrome (CdLS), Newborn screening, nipped B-like (NIPBL), T cell lymphopenia, T-cell receptor excision circle (TREC)
Received: 20 Oct 2025; Accepted: 06 Feb 2026.
Copyright: © 2026 Retif, Rolhfs Rivera, Upadia, Wysocki, Abreo and Wall. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Hope Retif
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