Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen
Clinical immunology (Orlando, Fla.)
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)
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.
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.