Progress of screening for primary immunodeficiency diseases in neonates / 中国小儿急救医学

ABSTRACT

Primary immunodeficiency disease (PID) is a disease that seriously affects children′s life and health.Early identification and timely intervention can significantly improve prognosis.Some PIDs appear clinical warning symptoms in neonatal period, which help clinicians to carry out early recognition.However, there are still great challenges in early detection of PIDs.At present, there are PID screening methods based on dried blood spots, including TREC screening for SCID and other T lymphocytopenia diseases, KREC screening for XLA and other B-lymphocytopenia diseases, and multiplex protein profiling screening for complement and phagocyte deficiencies.With the development of gene sequencing, next generation sequencing(NGS) has a good prospect in the application of newborn PID screening.Therefore, it is urgent to establish screening process of Chinese newborn PID.This review elaborated on the progress of newborn PID screening.