Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening

Authors

• Hope Retif, LSU Health Sciences Center - New OrleansFollow
• Devyn Rolhfs Rivera, Ochsner Medical Center, New Orleans, LA
• Jariya Upadia, Manning Family Children's, New Orleans, LA
• Christian Wysocki, University of Texas Southwestern Medical Center, Dallas, TX
• Andrew Abreo, LSU Health Sciences Center - New OrleansFollow
• Luke A. Wall, LSU Health Sciences Center - New OrleansFollow

Document Type

Article

Publication Date

3-3-2026

Publication Title

Frontiers in Immunology

Abstract

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.

PubMed ID

41853275

Volume

17

Recommended Citation

Retif, Hope; Rolhfs Rivera, Devyn; Upadia, Jariya; Wysocki, Christian; Abreo, Andrew; and Wall, Luke A., "Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening" (2026). School of Medicine Faculty Publications. 4505.
https://digitalscholar.lsuhsc.edu/som_facpubs/4505
10.3389/fimmu.2026.1729053