Natural History of Infants with Non-SCID T Cell Lymphopenia Identified on Newborn Screen

Overview

Journal Clin Immunol

Specialty Allergy & Immunology

Date 2022 Nov 11

PMID 36368643

Authors

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

Affiliations

Soon will be listed here.

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.

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