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...

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Autores: Dezfouli, Mahya, Bergström, Sofia, Skattum, Lillemor, Abolhassani, Hassan|||0000-0002-4838-0407, Neiman, Maja, Torabi-Rahvar, Monireh, Franco-Jarava, Clara|||0000-0002-9788-189X, Martín-Nalda, Andrea|||0000-0002-1715-153X, Ferrer Balaguer, Joana Maria, Slade, Charlotte A., Roos, Anja, López-Trascasa, Margarita, Gonzalez-Granado, Luis I., Allende-Martinez, Luis M., Mizuno, Yumi, Yoshida, Yusuke, Friman, Vanda, Lundgren, Åsa, Aghamohammadi, Asghar, Rezaei, Nima, Hernández-Gonzalez, Manuel, von Döbeln, Ulrika, Truedsson, Lennart, Hara, Toshiro, Nonoyama, Shigeaki, Schwenk, Jochen M., Nilsson, Peter, Hammarström, Lennart|||0000-0002-8635-9609
Formato: artículo
Fecha de publicación:2020
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:252537
Acesso em linha:https://ddd.uab.cat/record/252537
https://dx.doi.org/urn:doi:10.3389/fimmu.2020.00455
Access Level:acceso abierto
Palavra-chave:Primary immunodeficiency
Complement deficiencies
Phagocytic disorders
Presymptomatic diagnosis
Newborn screening
Dried blood spot
Protein profiling
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spelling Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte DeficienciesDezfouli, MahyaBergström, SofiaSkattum, LillemorAbolhassani, Hassan|||0000-0002-4838-0407Neiman, MajaTorabi-Rahvar, MonirehFranco-Jarava, Clara|||0000-0002-9788-189XMartín-Nalda, Andrea|||0000-0002-1715-153XFerrer Balaguer, Joana MariaSlade, Charlotte A.Roos, AnjaLópez-Trascasa, MargaritaGonzalez-Granado, Luis I.Allende-Martinez, Luis M.Mizuno, YumiYoshida, YusukeFriman, VandaLundgren, ÅsaAghamohammadi, AsgharRezaei, NimaHernández-Gonzalez, Manuelvon Döbeln, UlrikaTruedsson, LennartHara, ToshiroNonoyama, ShigeakiSchwenk, Jochen M.Nilsson, PeterHammarström, Lennart|||0000-0002-8635-9609Primary 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.Universitat Autònoma de Barcelona 22020-01-0120202020-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/252537https://dx.doi.org/urn:doi:10.3389/fimmu.2020.00455reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2525372026-06-06T12:50:31Z
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
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
Bergström, Sofia
Skattum, Lillemor
Abolhassani, Hassan|||0000-0002-4838-0407
Neiman, Maja
Torabi-Rahvar, Monireh
Franco-Jarava, Clara|||0000-0002-9788-189X
Martín-Nalda, Andrea|||0000-0002-1715-153X
Ferrer Balaguer, Joana Maria
Slade, Charlotte A.
Roos, Anja
López-Trascasa, Margarita
Gonzalez-Granado, Luis I.
Allende-Martinez, Luis M.
Mizuno, Yumi
Yoshida, Yusuke
Friman, Vanda
Lundgren, Åsa
Aghamohammadi, Asghar
Rezaei, Nima
Hernández-Gonzalez, Manuel
von Döbeln, Ulrika
Truedsson, Lennart
Hara, Toshiro
Nonoyama, Shigeaki
Schwenk, Jochen M.
Nilsson, Peter
Hammarström, Lennart|||0000-0002-8635-9609
author Dezfouli, Mahya
author_facet Dezfouli, Mahya
Bergström, Sofia
Skattum, Lillemor
Abolhassani, Hassan|||0000-0002-4838-0407
Neiman, Maja
Torabi-Rahvar, Monireh
Franco-Jarava, Clara|||0000-0002-9788-189X
Martín-Nalda, Andrea|||0000-0002-1715-153X
Ferrer Balaguer, Joana Maria
Slade, Charlotte A.
Roos, Anja
López-Trascasa, Margarita
Gonzalez-Granado, Luis I.
Allende-Martinez, Luis M.
Mizuno, Yumi
Yoshida, Yusuke
Friman, Vanda
Lundgren, Åsa
Aghamohammadi, Asghar
Rezaei, Nima
Hernández-Gonzalez, Manuel
von Döbeln, Ulrika
Truedsson, Lennart
Hara, Toshiro
Nonoyama, Shigeaki
Schwenk, Jochen M.
Nilsson, Peter
Hammarström, Lennart|||0000-0002-8635-9609
author_role author
author2 Bergström, Sofia
Skattum, Lillemor
Abolhassani, Hassan|||0000-0002-4838-0407
Neiman, Maja
Torabi-Rahvar, Monireh
Franco-Jarava, Clara|||0000-0002-9788-189X
Martín-Nalda, Andrea|||0000-0002-1715-153X
Ferrer Balaguer, Joana Maria
Slade, Charlotte A.
Roos, Anja
López-Trascasa, Margarita
Gonzalez-Granado, Luis I.
Allende-Martinez, Luis M.
Mizuno, Yumi
Yoshida, Yusuke
Friman, Vanda
Lundgren, Åsa
Aghamohammadi, Asghar
Rezaei, Nima
Hernández-Gonzalez, Manuel
von Döbeln, Ulrika
Truedsson, Lennart
Hara, Toshiro
Nonoyama, Shigeaki
Schwenk, Jochen M.
Nilsson, Peter
Hammarström, Lennart|||0000-0002-8635-9609
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
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv Primary immunodeficiency
Complement deficiencies
Phagocytic disorders
Presymptomatic diagnosis
Newborn screening
Dried blood spot
Protein profiling
topic 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 2
2020-01-01
2020
2020-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/252537
https://dx.doi.org/urn:doi:10.3389/fimmu.2020.00455
url https://ddd.uab.cat/record/252537
https://dx.doi.org/urn:doi:10.3389/fimmu.2020.00455
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
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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