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

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

Copyright © 2022 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 245(2022) vom: 10. Dez., Seite 109182
1. Verfasser: Kubala, Stephanie A (VerfasserIn)
Weitere Verfasser: Sandhu, Amandeep, Palacios-Kibler, Thamiris, Ward, Brant, Harmon, Gretchen, DeFelice, Magee L, Bundy, Vanessa, Younger, M Elizabeth M, Lederman, Howard, Liang, Hua, Anzabi, Marianne, Ford, Megan K, Heimall, Jennifer, Keller, Michael D, Lawrence, Monica G
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2022
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article 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)
Beschreibung
Zusammenfassung:Copyright © 2022 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 25.11.2022
Date Revised 02.12.2023
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2022.109182