Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen

Stephanie A. Kubala, Amandeep Sandhu, Thamiris Palacios-Kibler, Brant Ward, Gretchen Harmon, Magee L. DeFelice, Vanessa Bundy, M. Elizabeth M. Younger, Howard Lederman, Hua Liang, Marianne Anzabi, Megan K. Ford, Jennifer Heimall, Michael D. Keller, Monica G. Lawrence

Research output: Contribution to journalArticlepeer-review

Abstract

Newborn screening (NBS) for severe combined immunodeficiency (SCID) can identify infants with non-SCID T cell lymphopenia (TCL). The purpose of this study was to characterize the natural history and genetic findings of infants with non-SCID TCL identified on NBS. We analyzed data from 80 infants with non-SCID TCL in the mid-Atlantic region between 2012 and 2019. 66 patients underwent genetic testing and 41 (51%) had identified genetic variant(s). The most common genetic variants were thymic defects (33%), defects with unknown mechanisms (12%) and bone marrow production defects (5%). The genetic cohort had significantly lower median initial CD3+, CD4+, CD8+ and CD4/CD45RA+ T cell counts compared to the non-genetic cohort. Thirty-six (45%) had either viral, bacterial, or fungal infection; only one patient had an opportunistic infection (vaccine strain VZV infection). Twenty-six (31%) of patients had resolution of TCL during the study period.

Original languageEnglish (US)
Article number109182
JournalClinical Immunology
Volume245
DOIs
StatePublished - Dec 2022

Keywords

  • Genetic testing
  • Newborn screening (NBS)
  • Pneumocystis jirovecii pneumonia (PJP)
  • Severe combined immunodeficiency (SCID)
  • T cell lymphopenia (TCL)
  • T cell receptor excision circle (TREC)
  • Varicella-zoster virus (VZV)

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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