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

Hope Retif, Devyn Rolhfs Rivera, Jariya Upadia, Christian Wysocki, Andrew Abreo, Luke A Wall

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Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Hope RetifDepartment of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, United States.

Devyn Rolhfs RiveraDivision of Allergy and Immunology, Departments of Pediatrics and Medicine, Ochsner Medical Center, New Orleans, LA, United States.

Jariya UpadiaManning Family Children's, New Orleans, LA, United States.

Christian WysockiDivision of Allergy and Immunology, Departments of Pediatrics and Medicine, University of Texas Southwestern Medical Center, Dallas, TX, United States.

Andrew AbreoManning Family Children's, New Orleans, LA, United States.

Luke A WallManning Family Children's, New Orleans, LA, United States.

Funding

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6 · The paper itself

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.

Indexed as

De Lange SyndromeLymphopeniaReceptors, Antigen, T-CellT-LymphocytesCytopeniaFemaleHumansInfant, NewbornNeonatal ScreeningReceptors, Antigen, T-CellCornelia de Lange Syndrome (CdLS)newborn screeningnipped B-like (NIPBL)T cell lymphopeniaT-cell receptor excision circle (TREC)

Identifiers

PMID41853275

DOI10.3389/fimmu.2026.1729053

PMCPMC12992328

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