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Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

Dezfouli, Mahya ; Bergström, Sofia ; Skattum, Lillemor LU ; Abolhassani, Hassan ; Neiman, Maja ; Torabi-Rahvar, Monireh ; Franco Jarava, Clara ; Martin-Nalda, Andrea ; Ferrer Balaguer, Juana M. and Slade, Charlotte A. , et al. (2020) In Frontiers in Immunology 11.
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
complement deficiencies, dried blood spot, newborn screening, phagocytic disorders, presymptomatic diagnosis, primary immunodeficiency, protein profiling
in
Frontiers in Immunology
volume
11
article number
455
publisher
Frontiers Media S. A.
external identifiers
  • scopus:85082659138
  • pmid:32256498
ISSN
1664-3224
DOI
10.3389/fimmu.2020.00455
language
English
LU publication?
yes
id
49f477eb-059e-476d-9d0b-a40794c82bc5
date added to LUP
2020-04-21 16:27:14
date last changed
2024-06-12 12:17:13
@article{49f477eb-059e-476d-9d0b-a40794c82bc5,
  abstract     = {{<p>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.</p>}},
  author       = {{Dezfouli, Mahya and Bergström, Sofia and Skattum, Lillemor and Abolhassani, Hassan and Neiman, Maja and Torabi-Rahvar, Monireh and Franco Jarava, Clara and Martin-Nalda, Andrea and Ferrer Balaguer, Juana M. and Slade, Charlotte A. and Roos, Anja and Fernandez Pereira, Luis M. and López-Trascasa, Margarita and Gonzalez-Granado, Luis I. and Allende-Martinez, Luis M. and Mizuno, Yumi and Yoshida, Yusuke and Friman, Vanda and Lundgren, Åsa and Aghamohammadi, Asghar and Rezaei, Nima and Hernández-Gonzalez, Manuel and von Döbeln, Ulrika and Truedsson, Lennart and Hara, Toshiro and Nonoyama, Shigeaki and Schwenk, Jochen M. and Nilsson, Peter and Hammarström, Lennart}},
  issn         = {{1664-3224}},
  keywords     = {{complement deficiencies; dried blood spot; newborn screening; phagocytic disorders; presymptomatic diagnosis; primary immunodeficiency; protein profiling}},
  language     = {{eng}},
  month        = {{03}},
  publisher    = {{Frontiers Media S. A.}},
  series       = {{Frontiers in Immunology}},
  title        = {{Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies}},
  url          = {{http://dx.doi.org/10.3389/fimmu.2020.00455}},
  doi          = {{10.3389/fimmu.2020.00455}},
  volume       = {{11}},
  year         = {{2020}},
}