Related Experiment Video
Updated: Dec 24, 2025
A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
Published on: August 12, 2020
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies
Mahya Dezfouli1,2, Sofia Bergström2, Lillemor Skattum3,4
1Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Insights
Early diagnosis of primary immunodeficiencies (PIDs) improves outcomes. A new multiplex protein profiling method for newborn screening can detect 22 PIDs from dried blood spots, enabling earlier intervention and better patient health.
Area of Science:
- Immunology
- Biochemistry
- Genetics
Background:
- Primary immunodeficiencies (PIDs) significantly impact patient health, with early diagnosis crucial for improved clinical outcomes.
- Current diagnostic approaches often delay PID identification until severe symptoms manifest.
- Integrating PID screening into existing newborn screening programs is essential for timely management and prevention.
Purpose of the Study:
- To develop and validate a multiplex protein profiling method for the early diagnosis of primary immunodeficiencies (PIDs).
- To enable parallel detection of 22 PIDs affecting complement and phagocytic functions using dried blood spot samples.
- To establish a scalable diagnostic approach for population-wide newborn screening.
Main Methods:
- Utilized multiplex protein profiling on small eluates from dried blood spots.
- Developed a method for parallel diagnosis of 22 innate immunodeficiencies.
- Validated the diagnostic approach through retrospective screening of patient samples.
Main Results:
- Successfully developed a newborn screening method for 22 PIDs.
- Demonstrated the applicability of the method for population-scale screening using dried blood spots.
- Validated the diagnostic accuracy through retrospective analysis.
Conclusions:
- The developed multiplex protein profiling method facilitates early and comprehensive diagnosis of PIDs.
- This approach can be integrated into newborn screening programs for improved patient survival and quality of life.
- Enables earlier detection of complement and phagocytic disorders, leading to better disease management.
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.
