Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.

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

SUBMITTER: Dezfouli M 

PROVIDER: S-EPMC7090021 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature