| Autor: |
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 |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Clinical immunology (Orlando, Fla.). 245 |
| ISSN: |
1521-7035 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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