Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen
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 wit...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Kubala, Stephanie A. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022transfer abstract |
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| Übergeordnetes Werk: |
Enthalten in: Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event - Bušková, Jitka ELSEVIER, 2019, San Diego, Calif |
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| Übergeordnetes Werk: |
volume:245 ; year:2022 ; pages:0 |
| Links: |
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| DOI / URN: |
10.1016/j.clim.2022.109182 |
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| 520 | |a 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. | ||
| 520 | |a 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. | ||
| 700 | 1 | |a Sandhu, Amandeep |4 oth | |
| 700 | 1 | |a Palacios-Kibler, Thamiris |4 oth | |
| 700 | 1 | |a Ward, Brant |4 oth | |
| 700 | 1 | |a Harmon, Gretchen |4 oth | |
| 700 | 1 | |a DeFelice, Magee L. |4 oth | |
| 700 | 1 | |a Bundy, Vanessa |4 oth | |
| 700 | 1 | |a Younger, M. Elizabeth M. |4 oth | |
| 700 | 1 | |a Lederman, Howard |4 oth | |
| 700 | 1 | |a Liang, Hua |4 oth | |
| 700 | 1 | |a Anzabi, Marianne |4 oth | |
| 700 | 1 | |a Ford, Megan K. |4 oth | |
| 700 | 1 | |a Heimall, Jennifer |4 oth | |
| 700 | 1 | |a Keller, Michael D. |4 oth | |
| 700 | 1 | |a Lawrence, Monica G. |4 oth | |
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10.1016/j.clim.2022.109182 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001971.pica (DE-627)ELV059565667 (ELSEVIER)S1521-6616(22)00263-7 DE-627 ger DE-627 rakwb eng 610 VZ 44.90 bkl Kubala, Stephanie A. verfasserin aut Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Sandhu, Amandeep oth Palacios-Kibler, Thamiris oth Ward, Brant oth Harmon, Gretchen oth DeFelice, Magee L. oth Bundy, Vanessa oth Younger, M. Elizabeth M. oth Lederman, Howard oth Liang, Hua oth Anzabi, Marianne oth Ford, Megan K. oth Heimall, Jennifer oth Keller, Michael D. oth Lawrence, Monica G. oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:245 year:2022 pages:0 https://doi.org/10.1016/j.clim.2022.109182 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 245 2022 0 |
| spelling |
10.1016/j.clim.2022.109182 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001971.pica (DE-627)ELV059565667 (ELSEVIER)S1521-6616(22)00263-7 DE-627 ger DE-627 rakwb eng 610 VZ 44.90 bkl Kubala, Stephanie A. verfasserin aut Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Sandhu, Amandeep oth Palacios-Kibler, Thamiris oth Ward, Brant oth Harmon, Gretchen oth DeFelice, Magee L. oth Bundy, Vanessa oth Younger, M. Elizabeth M. oth Lederman, Howard oth Liang, Hua oth Anzabi, Marianne oth Ford, Megan K. oth Heimall, Jennifer oth Keller, Michael D. oth Lawrence, Monica G. oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:245 year:2022 pages:0 https://doi.org/10.1016/j.clim.2022.109182 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 245 2022 0 |
| allfields_unstemmed |
10.1016/j.clim.2022.109182 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001971.pica (DE-627)ELV059565667 (ELSEVIER)S1521-6616(22)00263-7 DE-627 ger DE-627 rakwb eng 610 VZ 44.90 bkl Kubala, Stephanie A. verfasserin aut Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Sandhu, Amandeep oth Palacios-Kibler, Thamiris oth Ward, Brant oth Harmon, Gretchen oth DeFelice, Magee L. oth Bundy, Vanessa oth Younger, M. Elizabeth M. oth Lederman, Howard oth Liang, Hua oth Anzabi, Marianne oth Ford, Megan K. oth Heimall, Jennifer oth Keller, Michael D. oth Lawrence, Monica G. oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:245 year:2022 pages:0 https://doi.org/10.1016/j.clim.2022.109182 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 245 2022 0 |
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10.1016/j.clim.2022.109182 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001971.pica (DE-627)ELV059565667 (ELSEVIER)S1521-6616(22)00263-7 DE-627 ger DE-627 rakwb eng 610 VZ 44.90 bkl Kubala, Stephanie A. verfasserin aut Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Sandhu, Amandeep oth Palacios-Kibler, Thamiris oth Ward, Brant oth Harmon, Gretchen oth DeFelice, Magee L. oth Bundy, Vanessa oth Younger, M. Elizabeth M. oth Lederman, Howard oth Liang, Hua oth Anzabi, Marianne oth Ford, Megan K. oth Heimall, Jennifer oth Keller, Michael D. oth Lawrence, Monica G. oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:245 year:2022 pages:0 https://doi.org/10.1016/j.clim.2022.109182 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 245 2022 0 |
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10.1016/j.clim.2022.109182 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001971.pica (DE-627)ELV059565667 (ELSEVIER)S1521-6616(22)00263-7 DE-627 ger DE-627 rakwb eng 610 VZ 44.90 bkl Kubala, Stephanie A. verfasserin aut Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Sandhu, Amandeep oth Palacios-Kibler, Thamiris oth Ward, Brant oth Harmon, Gretchen oth DeFelice, Magee L. oth Bundy, Vanessa oth Younger, M. Elizabeth M. oth Lederman, Howard oth Liang, Hua oth Anzabi, Marianne oth Ford, Megan K. oth Heimall, Jennifer oth Keller, Michael D. oth Lawrence, Monica G. oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:245 year:2022 pages:0 https://doi.org/10.1016/j.clim.2022.109182 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 245 2022 0 |
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Enthalten in Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event San Diego, Calif volume:245 year:2022 pages:0 |
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Kubala, Stephanie A. @@aut@@ Sandhu, Amandeep @@oth@@ Palacios-Kibler, Thamiris @@oth@@ Ward, Brant @@oth@@ Harmon, Gretchen @@oth@@ DeFelice, Magee L. @@oth@@ Bundy, Vanessa @@oth@@ Younger, M. Elizabeth M. @@oth@@ Lederman, Howard @@oth@@ Liang, Hua @@oth@@ Anzabi, Marianne @@oth@@ Ford, Megan K. @@oth@@ Heimall, Jennifer @@oth@@ Keller, Michael D. @@oth@@ Lawrence, Monica G. @@oth@@ |
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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). 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natural history of infants with non-scid t cell lymphopenia identified on newborn screen |
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Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen |
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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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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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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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