1 research outputs found
Newborn screening for presymptomatic diagnosis of complement and phagocyte deficiencies
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 patientsThis work was supported by the Swedish Research Council
(VR) and grants provided by the Stockholm County
Council (ALF)