Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab. Karolinska Univ Hosp Huddinge, Dept Lab Med, Div Clin Immunol & Transfus Med, Stockholm, Sweden..ORCID iD: 0000-0002-1524-6762
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Affinity Proteomics.
Lund Univ, Sect Microbiol Immunol & Glycobiol, Dept Lab Med, Lund, Sweden.;Reg Skane, Clin Immunol & Transfus Med, Lund, Sweden..
Karolinska Univ Hosp Huddinge, Dept Lab Med, Div Clin Immunol & Transfus Med, Stockholm, Sweden.;Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran..
Show others and affiliations
2020 (English)In: Frontiers in Immunology, ISSN 1664-3224, E-ISSN 1664-3224, Vol. 11, article id 455Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
FRONTIERS MEDIA SA , 2020. Vol. 11, article id 455
Keywords [en]
primary immunodeficiency, complement deficiencies, phagocytic disorders, presymptomatic diagnosis, newborn screening, dried blood spot, protein profiling
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:kth:diva-272811DOI: 10.3389/fimmu.2020.00455ISI: 000525552000001PubMedID: 32256498Scopus ID: 2-s2.0-85082659138OAI: oai:DiVA.org:kth-272811DiVA, id: diva2:1427051
Funder
Science for Life Laboratory - a national resource center for high-throughput molecular bioscience
Note

QC 20200428

Available from: 2020-04-28 Created: 2020-04-28 Last updated: 2020-04-28Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Authority records BETA

Dezfouli, MahyaBergström, SofiaNeiman, MajaSchwenk, Jochen M.Nilsson, Peter

Search in DiVA

By author/editor
Dezfouli, MahyaBergström, SofiaNeiman, MajaSchwenk, Jochen M.Nilsson, Peter
By organisation
Gene TechnologyScience for Life Laboratory, SciLifeLabAffinity Proteomics
In the same journal
Frontiers in Immunology
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 18 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf