TY - JOUR
T1 - Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen
AU - Kubala, Stephanie A.
AU - Sandhu, Amandeep
AU - Palacios-Kibler, Thamiris
AU - Ward, Brant
AU - Harmon, Gretchen
AU - DeFelice, Magee L.
AU - Bundy, Vanessa
AU - Younger, M. Elizabeth M.
AU - Lederman, Howard
AU - Liang, Hua
AU - Anzabi, Marianne
AU - Ford, Megan K.
AU - Heimall, Jennifer
AU - Keller, Michael D.
AU - Lawrence, Monica G.
N1 - Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
KW - Genetic testing
KW - Newborn screening (NBS)
KW - Pneumocystis jirovecii pneumonia (PJP)
KW - Severe combined immunodeficiency (SCID)
KW - T cell lymphopenia (TCL)
KW - T cell receptor excision circle (TREC)
KW - Varicella-zoster virus (VZV)
UR - https://www.scopus.com/pages/publications/85141755728
U2 - 10.1016/j.clim.2022.109182
DO - 10.1016/j.clim.2022.109182
M3 - Article
C2 - 36368643
AN - SCOPUS:85141755728
SN - 1521-6616
VL - 245
JO - Clinical Immunology
JF - Clinical Immunology
M1 - 109182
ER -