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

Stephanie A. Kubala, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States of America.
Amandeep Sandhu, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Thamiris Palacios-Kibler, Division of Asthma, Allergy and Immunology, University of Virginia Health, Charlottesville, VA, United States of America.
Brant Ward, Division of Rheumatology, Allergy and Immunology, Virginia Commonwealth University, Richmond, VA, United States of America.
Gretchen Harmon, Division of Allergy & Immunology, Nemours Children's Hospital, Wilmington, DE, United States of America.
Magee L. DeFelice, Division of Allergy & Immunology, Nemours Children's Hospital, Wilmington, DE, United States of America.
Vanessa Bundy, Division of Allergy and Immunology, Children's National Hospital, Washington, DC, United States of America.
M Elizabeth Younger, Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
Howard Lederman, Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
Hua Liang, Department of Statistics, George Washington University, Washington, DC, United States of America.
Marianne Anzabi, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Megan K. Ford, Division of Pulmonary, Allergy & Critical Care, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, United States of America.
Jennifer Heimall, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Michael D. Keller, Division of Allergy and Immunology, Children's National Hospital, Washington, DC, United States of America.
Monica G. Lawrence, Division of Asthma, Allergy and Immunology, University of Virginia Health, Charlottesville, VA, United States of America. Electronic address: ml4nz@hscmail.mcc.virginia.edu.

Document Type

Journal Article

Publication Date

12-1-2022

Journal

Clinical immunology (Orlando, Fla.)

Volume

245

DOI

10.1016/j.clim.2022.109182

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)

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.

Department

Pediatrics

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