Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

Research output: Contribution to journalArticle

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 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.

Details

Authors
  • Mahya Dezfouli
  • Sofia Bergström
  • Hassan Abolhassani
  • Maja Neiman
  • Monireh Torabi-Rahvar
  • Clara Franco Jarava
  • Andrea Martin-Nalda
  • Juana M. Ferrer Balaguer
  • Charlotte A. Slade
  • Anja Roos
  • Luis M. Fernandez Pereira
  • Margarita López-Trascasa
  • Luis I. Gonzalez-Granado
  • Luis M. Allende-Martinez
  • Yumi Mizuno
  • Yusuke Yoshida
  • Vanda Friman
  • Åsa Lundgren
  • Asghar Aghamohammadi
  • Nima Rezaei
  • Manuel Hernández-Gonzalez
  • Ulrika von Döbeln
  • Toshiro Hara
  • Shigeaki Nonoyama
  • Jochen M. Schwenk
  • Peter Nilsson
  • Lennart Hammarström
Organisations
External organisations
  • Karolinska University Hospital
  • KTH Royal Institute of Technology
  • Tehran University of Medical Sciences
  • Vall d'Hebron University Hospital
  • Royal Melbourne Hospital
  • Walter and Eliza Hall Institute of Medical Research
  • St. Antonius Hospital
  • University Hospital La Paz
  • 12 de Octubre University Hospital
  • Kyushu University
  • National Defense Medical College
  • University of Gothenburg
  • Central Hospital Kristianstad
  • Region Skåne
  • Hospital Universitario Son Espases
  • Autonomous University of Barcelona
  • Hospital San Pedro de Alcántara
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Rheumatology and Autoimmunity

Keywords

  • complement deficiencies, dried blood spot, newborn screening, phagocytic disorders, presymptomatic diagnosis, primary immunodeficiency, protein profiling
Original languageEnglish
Article number455
JournalFrontiers in Immunology
Volume11
Publication statusPublished - 2020 Mar 17
Publication categoryResearch
Peer-reviewedYes