Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies Publisher Pubmed

Dezfouli M^{1, 2} ; Bergstrom S² ; Skattum L^{3, 4} ; Abolhassani H^{1, 5} ; Neiman M² ; Torabirahvar M⁶ ; Franco Jarava C⁷ ; Martinnalda A⁸ ; Ferrer Balaguer JM⁹ ; Slade CA^{10, 11} ; Roos A¹² ; Fernandez Pereira LM¹³ ; Lopeztrascasa M¹⁴ ; Gonzalezgranado LI¹⁵ Show All Authors

Dezfouli M^{1, 2}
Bergstrom S²
Skattum L^{3, 4}
Abolhassani H^{1, 5}
Neiman M²
Torabirahvar M⁶
Franco Jarava C⁷
Martinnalda A⁸
Ferrer Balaguer JM⁹
Slade CA^{10, 11}
Roos A¹²
Fernandez Pereira LM¹³
Lopeztrascasa M¹⁴
Gonzalezgranado LI¹⁵
Allendemartinez LM¹⁶
Mizuno Y¹⁷
Yoshida Y¹⁸
Friman V¹⁹
Lundgren A²⁰
Aghamohammadi A⁵
Rezaei N⁵
Hernandezgonzalez M⁷
Von Dobeln U²¹
Truedsson L³
Hara T¹⁷
Nonoyama S¹⁸
Schwenk JM²
Nilsson P²
Hammarstrom L¹

Show Affiliations

1. Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden
2. Division of Affinity Proteomics, Department of Protein Science, KTH Royal Institute of Technology SciLifeLab, Stockholm, Sweden
3. Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden
4. Clinical Immunology and Transfusion Medicine, Region Skane, Lund, Sweden
5. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
7. Immunology Department, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain
8. Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain
9. Immunology, Hospital Universitari Son Espases/Institut d'Investigacio Sanitaria Illes Balears, Palma, Spain
10. Royal Melbourne Hospital, Melbourne, VIC, Australia
11. The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia
12. Department of Microbiology and Immunology, Sint Antonius Hospital, Nieuwegein, Netherlands
13. Department of Immunology, Hospital San Pedro de Alcantara, Caceres, Spain
14. Departamento de Medicina, Hospital La Paz Institute for Health Research (IdiPAZ), Universidad Autonoma de Madrid and Complement Research Group, Madrid, Spain
15. Primary Immunodeficiencies Unit, Department of Pediatrics, University Hospital 12 de Octubre, Research Institute Hospital 12 Octubre (I+12), Madrid, Spain
16. Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 Octubre (I+12), Madrid, Spain
17. Fukuoka Children's Hospital, Kyushu University, Fukuoka, Japan
18. Department of Pediatrics, National Defense Medical College, Saitama, Japan
19. Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
20. Departments of Infectious Diseases, Central Hospital, Kristianstad, Sweden
21. Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden

Source: Frontiers in Immunology Published:2020

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. © Copyright © 2020 Dezfouli, Bergstrom, Skattum, Abolhassani, Neiman, Torabi-Rahvar, Franco Jarava, Martin-Nalda, Ferrer Balaguer, Slade, Roos, Fernandez Pereira, Lopez-Trascasa, Gonzalez-Granado, Allende-Martinez, Mizuno, Yoshida, Friman, Lundgren, Aghamohammadi, Rezaei, Hernandez-Gonzalez, von Dobeln, Truedsson, Hara, Nonoyama, Schwenk, Nilsson and Hammarstrom.

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Style	Citing Format
MLA	Dezfouli M, et al.. "Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies." Frontiers in Immunology, vol. 11, no. , 2020, pp. -.
APA	Dezfouli M, Bergstrom S, Skattum L, Abolhassani H, Neiman M, Torabirahvar M, Franco Jarava C, Martinnalda A, Ferrer Balaguer JM, Slade CA, Roos A, Fernandez Pereira LM, Lopeztrascasa M, Gonzalezgranado LI, Allendemartinez LM, Mizuno Y, Yoshida Y, Friman V, Lundgren A, ... Hammarstrom L (2020). Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies. Frontiers in Immunology, 11(), -.
Chicago	Dezfouli M, Bergstrom S, Skattum L, Abolhassani H, Neiman M, Torabirahvar M, Franco Jarava C, et al.. "Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies." Frontiers in Immunology 11, no. (2020): -.
Harvard	Dezfouli M et al. (2020) 'Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies', Frontiers in Immunology, 11(), pp. -.
Vancouver	Dezfouli M, Bergstrom S, Skattum L, Abolhassani H, Neiman M, Torabirahvar M, et al.. Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies. Frontiers in Immunology. 2020;11():-.
BibTex	@article{ author = {Dezfouli M and Bergstrom S and Skattum L and Abolhassani H and Neiman M and Torabirahvar M and Franco Jarava C and Martinnalda A and Ferrer Balaguer JM and Slade CA and Roos A and Fernandez Pereira LM and Lopeztrascasa M and Gonzalezgranado LI and Allendemartinez LM and Mizuno Y and Yoshida Y and Friman V and Lundgren A and Aghamohammadi A and Rezaei N and Hernandezgonzalez M and Von Dobeln U and Truedsson L and Hara T and Nonoyama S and Schwenk JM and Nilsson P and Hammarstrom L}, title = {Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies}, journal = {Frontiers in Immunology}, volume = {11}, number = {}, pages = {-}, year = {2020} }
RIS	TY - JOUR AU - Dezfouli M AU - Bergstrom S AU - Skattum L AU - Abolhassani H AU - Neiman M AU - Torabirahvar M AU - Franco Jarava C AU - Martinnalda A AU - Ferrer Balaguer JM AU - Slade CA AU - Roos A AU - Fernandez Pereira LM AU - Lopeztrascasa M AU - Gonzalezgranado LI AU - Allendemartinez LM AU - Mizuno Y AU - Yoshida Y AU - Friman V AU - Lundgren A AU - Aghamohammadi A AU - Rezaei N AU - Hernandezgonzalez M AU - Von Dobeln U AU - Truedsson L AU - Hara T AU - Nonoyama S AU - Schwenk JM AU - Nilsson P AU - Hammarstrom L TI - Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies JO - Frontiers in Immunology VL - 11 IS - SP - EP - PY - 2020 ER -

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