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

Authors

• 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.

APA Citation

Kubala, Stephanie A.; Sandhu, Amandeep; Palacios-Kibler, Thamiris; Ward, Brant; Harmon, Gretchen; DeFelice, Magee L.; Bundy, Vanessa; Younger, M Elizabeth; Lederman, Howard; Liang, Hua; Anzabi, Marianne; Ford, Megan K.; Heimall, Jennifer; Keller, Michael D.; and Lawrence, Monica G., "Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen" (2022). GW Authored Works. Paper 2183.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/2183

Department

Pediatrics