Predictors for T-cell Receptor Excision Circles in Infants Without Severe Combined Immunodeficiency or Thymic Aplasia/Hypoplasia.

Authors

• Aishwarya Navalpakam
• Isabel Hurden
• Mark Vander Lugt
• Rebecca Shaulis
• Mary Fredrickson
• Divya Seth
• Joseph Hill
• Ronald Thomas
• Nicholas Hartog, Corewell Health West
• Jenny Huang
• Pavadee Poowuttikul

Document Type

Article

Publication Date

3-2026

Publication Title

Annals of Allergy, Asthma & Immunology

Abstract

BACKGROUND: Although developed to identify severe combined immunodeficiency (SCID), T-cell receptor excision circle (TREC)-based newborn screening also detects T-cell lymphopenia of varying etiologies.

OBJECTIVE: Our aim was to identify perinatal factors associated with abnormal TRECs in infants without SCID or thymic aplasia/hypoplasia.

METHODS: Newborns (birthdates: 10/2011-12/2021) with abnormal TRECs, without SCID or thymic aplasia/hypoplasia, were compared to normal TREC controls matched for gestational age (GA), birthweight (BW), and Neonatal Intensive Care Unit (NICU) status.

RESULTS: 949 infants had abnormal TRECs. After excluding 62 infants with SCID or thymic aplasia/hypoplasia, 887 cases were matched to 2,661 controls. Logistic regression showed that male sex (OR 1.75, 95% CI: 1.49-2.05), meconium-stained amniotic fluid (OR 1.78, 95% CI: 1.28-2.48), history of transfusion (OR 1.75, 95% CI: 1.42-2.03), lower 5-minute APGAR scores (OR 0.84, 95% CI: 0.81-0.87), and pre-pregnancy diabetes (OR 1.75, 95% CI: 1.10-2.72) were most predictive of abnormal TRECs. Black infants (49.2% vs. 34.2%, p< .001) and infants of black mothers (38.1% vs. 30.7%; p< .001) had significantly higher rates of abnormal TRECs compared to controls. Maternal alcohol and cigarette use, pre-pregnancy and gestational hypertension, and intrapartum steroid use did not significantly differ between the abnormal TRECs and control groups.

CONCLUSION: Male sex, meconium-stained amniotic fluid, transfusion history, lower 5-minute APGAR scores, and pre-pregnancy diabetes were most predictive of abnormal TRECs in non-SCID/thymic aplasia/hypoplasia infants. Maternal alcohol/ cigarette use, hypertension, or steroid use, while related to perinatal stress, were not associated with abnormal TRECs. Black infants had a higher rate of abnormal TRECs compared to controls, highlighting potential health disparities.

Recommended Citation

Navalpakam A, Hurden I, Lugt MV, Shaulis R, Fredrickson M, Seth D, et al. [Hartog N]. Predictors for T-cell receptor excision circles in infants without severe combined immunodeficiency or thymic aplasia/hypoplasia. Ann Allergy Asthma Immunol. 2026. doi: 10.1016/j.anai.2026.03.017. PMID: 41905469.

Comments

Helen DeVos Children's Hospital

DOI

10.1016/j.anai.2026.03.017

ISSN

1534-4436

PubMed ID

41905469