Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodefici...
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Format: | Article |
Language: | English |
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Frontiers Media S.A.
2020-10-01
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Series: | Frontiers in Immunology |
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Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2020.01948/full |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maria Giżewska Maria Giżewska Katarzyna Durda Theresa Winter Theresa Winter Iwona Ostrowska Mariusz Ołtarzewski Jeannette Klein Oliver Blankenstein Hanna Romanowska Hanna Romanowska Elżbieta Krzywińska-Zdeb Elżbieta Krzywińska-Zdeb Michał Filip Patalan Michał Filip Patalan Elżbieta Bartkowiak Natalia Szczerba Stefan Seiberling Bożena Birkenfeld Bożena Birkenfeld Matthias Nauck Matthias Nauck Horst von Bernuth Horst von Bernuth Horst von Bernuth Christian Meisel Christian Meisel Ewa Anna Bernatowska Mieczysław Walczak Mieczysław Walczak Małgorzata Pac |
spellingShingle |
Maria Giżewska Maria Giżewska Katarzyna Durda Theresa Winter Theresa Winter Iwona Ostrowska Mariusz Ołtarzewski Jeannette Klein Oliver Blankenstein Hanna Romanowska Hanna Romanowska Elżbieta Krzywińska-Zdeb Elżbieta Krzywińska-Zdeb Michał Filip Patalan Michał Filip Patalan Elżbieta Bartkowiak Natalia Szczerba Stefan Seiberling Bożena Birkenfeld Bożena Birkenfeld Matthias Nauck Matthias Nauck Horst von Bernuth Horst von Bernuth Horst von Bernuth Christian Meisel Christian Meisel Ewa Anna Bernatowska Mieczysław Walczak Mieczysław Walczak Małgorzata Pac Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration Frontiers in Immunology newborn screening SCID TREC KREC RareScreen PID |
author_facet |
Maria Giżewska Maria Giżewska Katarzyna Durda Theresa Winter Theresa Winter Iwona Ostrowska Mariusz Ołtarzewski Jeannette Klein Oliver Blankenstein Hanna Romanowska Hanna Romanowska Elżbieta Krzywińska-Zdeb Elżbieta Krzywińska-Zdeb Michał Filip Patalan Michał Filip Patalan Elżbieta Bartkowiak Natalia Szczerba Stefan Seiberling Bożena Birkenfeld Bożena Birkenfeld Matthias Nauck Matthias Nauck Horst von Bernuth Horst von Bernuth Horst von Bernuth Christian Meisel Christian Meisel Ewa Anna Bernatowska Mieczysław Walczak Mieczysław Walczak Małgorzata Pac |
author_sort |
Maria Giżewska |
title |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration |
title_short |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration |
title_full |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration |
title_fullStr |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration |
title_full_unstemmed |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration |
title_sort |
newborn screening for scid and other severe primary immunodeficiency in the polish-german transborder area: experience from the first 14 months of collaboration |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Immunology |
issn |
1664-3224 |
publishDate |
2020-10-01 |
description |
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000–100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-BlowNK+ SCID, one case of atypical Tlow BlowNK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T- and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe. |
topic |
newborn screening SCID TREC KREC RareScreen PID |
url |
https://www.frontiersin.org/article/10.3389/fimmu.2020.01948/full |
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doaj-ecc1ba82e63e4ae2b75a048aab8bf21f2020-11-25T03:41:15ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-10-011110.3389/fimmu.2020.01948557845Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of CollaborationMaria Giżewska0Maria Giżewska1Katarzyna Durda2Theresa Winter3Theresa Winter4Iwona Ostrowska5Mariusz Ołtarzewski6Jeannette Klein7Oliver Blankenstein8Hanna Romanowska9Hanna Romanowska10Elżbieta Krzywińska-Zdeb11Elżbieta Krzywińska-Zdeb12Michał Filip Patalan13Michał Filip Patalan14Elżbieta Bartkowiak15Natalia Szczerba16Stefan Seiberling17Bożena Birkenfeld18Bożena Birkenfeld19Matthias Nauck20Matthias Nauck21Horst von Bernuth22Horst von Bernuth23Horst von Bernuth24Christian Meisel25Christian Meisel26Ewa Anna Bernatowska27Mieczysław Walczak28Mieczysław Walczak29Małgorzata Pac30Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, GermanyIntegrated Research Biobank (IRB), University Medicine Greifswald, Greifswald, GermanyIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandDepartment of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, PolandNewbornscreening Laboratory, Charité Universitaetsmedizin, Berlin, GermanyNewbornscreening Laboratory, Charité Universitaetsmedizin, Berlin, GermanyDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandResearch Support Center, University of Greifswald, Greifswald, GermanyIndependent Public Clinical Hospital nr 1 PUM, Szczecin, PolandDepartment of Nuclear Medicine, Pomeranian Medical University, Szczecin, PolandInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, GermanyDZHK (German Centre for Cardiovascular Research), Partner Site Greifswald, University Medicine Greifswald, Greifswald, Germany0Department of Pediatric Pulmonology, Immunology and Intensive Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany1Labor Berlin - Charité Vivantes Services GmbH, Berlin, Germany2BIH Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Berlin, Germany1Labor Berlin - Charité Vivantes Services GmbH, Berlin, Germany3Institute of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany4Department of Immunology, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, PolandIndependent Public Clinical Hospital nr 1 PUM, Szczecin, Poland4Department of Immunology, The Children's Memorial Health Institute, Warsaw, PolandIn 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000–100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-BlowNK+ SCID, one case of atypical Tlow BlowNK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T- and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe.https://www.frontiersin.org/article/10.3389/fimmu.2020.01948/fullnewborn screeningSCIDTRECKRECRareScreenPID |