Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Conselleria de Salut i Consum del Govern de les Illes Balears |
| Repositorio: | Docusalut |
| Idioma: | inglés |
| OAI Identifier: | oai:docusalut.com:20.500.13003/11343 |
| Acceso en línea: | https://hdl.handle.net/20.500.13003/11343 |
| Access Level: | acceso abierto |
| Palabra clave: | Early Diagnosis Phagocytosis Hereditary Complement Deficiency Diseases Immunologic Deficiency Syndromes Infant, Newborn Retrospective Studies Phagocyte Bactericidal Dysfunction Phagocytes Humans Neonatal Screening Tamizaje Neonatal Enfermedades por Deficiencia de Complemento Hereditario Humanos Fagocitosis Recién Nacido Fagocitos Disfunción de Fagocito Bactericida Estudios Retrospectivos Diagnóstico Precoz Síndromes de Inmunodeficiencia primary immunodeficiency complement deficiencies phagocytic disorders presymptomatic diagnosis newborn screening dried blood spot protein profiling |
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Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte DeficienciesDezfouli, MahyaBergstrom, SofiaSkattum, LillemorAbolhassani, HassanNeiman, MajaTorabi-Rahvar, MonirehFranco Jarava, ClaraMartin-Nalda, AndreaFerrer Balaguer, Juana MariaSlade, Charlotte A.Roos, AnjaFernandez Pereira, Luis M.Lopez-Trascasa, MargaritaGonzalez-Granado, Luis, IAllende-Martinez, Luis M.Mizuno, YumiYoshida, YusukeFriman, VandaLundgren, AsaAghamohammadi, AsgharRezaei, NimaHernandez-Guerra, Manuelvon Dobeln, UlrikaTruedsson, LennartHara, ToshiroNonoyama, ShigeakiSchwenk, Jochen M.Nilsson, PeterHammarstrom, LennartEarly DiagnosisPhagocytosisHereditary Complement Deficiency DiseasesImmunologic Deficiency SyndromesInfant, NewbornRetrospective StudiesPhagocyte Bactericidal DysfunctionPhagocytesHumansNeonatal ScreeningTamizaje NeonatalEnfermedades por Deficiencia de Complemento HereditarioHumanosFagocitosisRecién NacidoFagocitosDisfunción de Fagocito BactericidaEstudios RetrospectivosDiagnóstico PrecozSíndromes de Inmunodeficienciaprimary immunodeficiencycomplement deficienciesphagocytic disorderspresymptomatic diagnosisnewborn screeningdried blood spotprotein profilingThe clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve survival and provide better disease management and preventive care in PID patients. This calls for the detection of disease biomarkers in blood and the use of dried blood spot samples, which is a part of routine newborn screening programs worldwide. Here, we developed a newborn screening method based on multiplex protein profiling for parallel diagnosis of 22 innate immunodeficiencies affecting the complement system and respiratory burst function in phagocytosis. The proposed method uses a small fraction of eluted blood from dried blood spots and is applicable for population-scale performance. The diagnosis method is validated through a retrospective screening of immunodeficient patient samples. This diagnostic approach can pave the way for an earlier, more comprehensive and accurate diagnosis of complement and phagocytic disorders, which ultimately lead to a healthy and active life for the PID patients.Frontiers Media Sa20202020-03-1720202020-03-17research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/11343reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/113432026-06-22T12:44:07Z |
| dc.title.none.fl_str_mv |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| title |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| spellingShingle |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies Dezfouli, Mahya Early Diagnosis Phagocytosis Hereditary Complement Deficiency Diseases Immunologic Deficiency Syndromes Infant, Newborn Retrospective Studies Phagocyte Bactericidal Dysfunction Phagocytes Humans Neonatal Screening Tamizaje Neonatal Enfermedades por Deficiencia de Complemento Hereditario Humanos Fagocitosis Recién Nacido Fagocitos Disfunción de Fagocito Bactericida Estudios Retrospectivos Diagnóstico Precoz Síndromes de Inmunodeficiencia primary immunodeficiency complement deficiencies phagocytic disorders presymptomatic diagnosis newborn screening dried blood spot protein profiling |
| title_short |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| title_full |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| title_fullStr |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| title_full_unstemmed |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| title_sort |
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| dc.creator.none.fl_str_mv |
Dezfouli, Mahya Bergstrom, Sofia Skattum, Lillemor Abolhassani, Hassan Neiman, Maja Torabi-Rahvar, Monireh Franco Jarava, Clara Martin-Nalda, Andrea Ferrer Balaguer, Juana Maria Slade, Charlotte A. Roos, Anja Fernandez Pereira, Luis M. Lopez-Trascasa, Margarita Gonzalez-Granado, Luis, I Allende-Martinez, Luis M. Mizuno, Yumi Yoshida, Yusuke Friman, Vanda Lundgren, Asa Aghamohammadi, Asghar Rezaei, Nima Hernandez-Guerra, Manuel von Dobeln, Ulrika Truedsson, Lennart Hara, Toshiro Nonoyama, Shigeaki Schwenk, Jochen M. Nilsson, Peter Hammarstrom, Lennart |
| author |
Dezfouli, Mahya |
| author_facet |
Dezfouli, Mahya Bergstrom, Sofia Skattum, Lillemor Abolhassani, Hassan Neiman, Maja Torabi-Rahvar, Monireh Franco Jarava, Clara Martin-Nalda, Andrea Ferrer Balaguer, Juana Maria Slade, Charlotte A. Roos, Anja Fernandez Pereira, Luis M. Lopez-Trascasa, Margarita Gonzalez-Granado, Luis, I Allende-Martinez, Luis M. Mizuno, Yumi Yoshida, Yusuke Friman, Vanda Lundgren, Asa Aghamohammadi, Asghar Rezaei, Nima Hernandez-Guerra, Manuel von Dobeln, Ulrika Truedsson, Lennart Hara, Toshiro Nonoyama, Shigeaki Schwenk, Jochen M. Nilsson, Peter Hammarstrom, Lennart |
| author_role |
author |
| author2 |
Bergstrom, Sofia Skattum, Lillemor Abolhassani, Hassan Neiman, Maja Torabi-Rahvar, Monireh Franco Jarava, Clara Martin-Nalda, Andrea Ferrer Balaguer, Juana Maria Slade, Charlotte A. Roos, Anja Fernandez Pereira, Luis M. Lopez-Trascasa, Margarita Gonzalez-Granado, Luis, I Allende-Martinez, Luis M. Mizuno, Yumi Yoshida, Yusuke Friman, Vanda Lundgren, Asa Aghamohammadi, Asghar Rezaei, Nima Hernandez-Guerra, Manuel von Dobeln, Ulrika Truedsson, Lennart Hara, Toshiro Nonoyama, Shigeaki Schwenk, Jochen M. Nilsson, Peter Hammarstrom, Lennart |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
|
| dc.subject.none.fl_str_mv |
Early Diagnosis Phagocytosis Hereditary Complement Deficiency Diseases Immunologic Deficiency Syndromes Infant, Newborn Retrospective Studies Phagocyte Bactericidal Dysfunction Phagocytes Humans Neonatal Screening Tamizaje Neonatal Enfermedades por Deficiencia de Complemento Hereditario Humanos Fagocitosis Recién Nacido Fagocitos Disfunción de Fagocito Bactericida Estudios Retrospectivos Diagnóstico Precoz Síndromes de Inmunodeficiencia primary immunodeficiency complement deficiencies phagocytic disorders presymptomatic diagnosis newborn screening dried blood spot protein profiling |
| topic |
Early Diagnosis Phagocytosis Hereditary Complement Deficiency Diseases Immunologic Deficiency Syndromes Infant, Newborn Retrospective Studies Phagocyte Bactericidal Dysfunction Phagocytes Humans Neonatal Screening Tamizaje Neonatal Enfermedades por Deficiencia de Complemento Hereditario Humanos Fagocitosis Recién Nacido Fagocitos Disfunción de Fagocito Bactericida Estudios Retrospectivos Diagnóstico Precoz Síndromes de Inmunodeficiencia primary immunodeficiency complement deficiencies phagocytic disorders presymptomatic diagnosis newborn screening dried blood spot protein profiling |
| description |
The clinical outcomes of primary immunodeficiencies (PIDs) are greatly improved by accurate diagnosis early in life. However, it is not common to consider PIDs before the manifestation of severe clinical symptoms. Including PIDs in the nation-wide newborn screening programs will potentially improve survival and provide better disease management and preventive care in PID patients. This calls for the detection of disease biomarkers in blood and the use of dried blood spot samples, which is a part of routine newborn screening programs worldwide. Here, we developed a newborn screening method based on multiplex protein profiling for parallel diagnosis of 22 innate immunodeficiencies affecting the complement system and respiratory burst function in phagocytosis. The proposed method uses a small fraction of eluted blood from dried blood spots and is applicable for population-scale performance. The diagnosis method is validated through a retrospective screening of immunodeficient patient samples. This diagnostic approach can pave the way for an earlier, more comprehensive and accurate diagnosis of complement and phagocytic disorders, which ultimately lead to a healthy and active life for the PID patients. |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020 2020-03-17 2020 2020-03-17 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/20.500.13003/11343 |
| url |
https://hdl.handle.net/20.500.13003/11343 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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Frontiers Media Sa |
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Frontiers Media Sa |
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reponame:Docusalut instname:Conselleria de Salut i Consum del Govern de les Illes Balears |
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