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

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

doi:10.1016/j.clim.2022.109182

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

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

National Institutes of Health
The Children's Hospital of Philadelphia
University of Virginia
Virginia Commonwealth University
Children's National Medical Center
Johns Hopkins University
George Washington University
Thomas Jefferson University

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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.

Original language	English
Article number	109182
Journal	Clinical Immunology
Volume	245
DOIs	https://doi.org/10.1016/j.clim.2022.109182
State	Published - Dec 2022

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)

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10.1016/j.clim.2022.109182

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Kubala, S. A., Sandhu, A., Palacios-Kibler, T., Ward, B., Harmon, G., DeFelice, M. L., Bundy, V., Younger, M. E. M., Lederman, H., Liang, H., Anzabi, M., Ford, M. K., Heimall, J., Keller, M. D., & Lawrence, M. G. (2022). Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen. Clinical Immunology, 245, Article 109182. https://doi.org/10.1016/j.clim.2022.109182

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title = "Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen",

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.",

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)",

author = "Kubala, \{Stephanie A.\} and Amandeep Sandhu and Thamiris Palacios-Kibler and Brant Ward and Gretchen Harmon and DeFelice, \{Magee L.\} and Vanessa Bundy and Younger, \{M. Elizabeth M.\} and Howard Lederman and Hua Liang and Marianne Anzabi and Ford, \{Megan K.\} and Jennifer Heimall and Keller, \{Michael D.\} and Lawrence, \{Monica G.\}",

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year = "2022",

month = dec,

doi = "10.1016/j.clim.2022.109182",

language = "English",

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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.

PY - 2022/12

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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.

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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)

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DO - 10.1016/j.clim.2022.109182

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JO - Clinical Immunology

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ER -

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

Abstract

Keywords

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