关键词: 原发性免疫缺陷病, 重症联合免疫缺陷病, X连锁无丙种球蛋白血症, 脊髓性肌萎缩症, 新生儿, 联合筛查

Abstract: Primary immunodeficiency disease (PID) and spinal muscular atrophy (SMA) are genetic birth defects caused by gene mutations that seriously affect children's health and even lead to death.Early detection,timely diagnosis and treatment are the key to better prognosis.Neonatal screening is an effective means to achieve early diagnosis and intervention.In recent years,neonatal screening in some countries and regions have included SMA,severe combined immunodeficiency disease (SCID) (the most severe disease of PID) and X-linked aglobulinemia (XLA) (the most common B-cell deficiency disease of PID).Zhejiang province is the first in China to carry out neonatal combined screening for SCID,XLA and SMA,which has greatly increased screening efficiency,advanced tertiary prevention of birth defects,significantly improved the prognosis of patients,enhanced their quality of life and reduced mortality.

Key words: primary immunodeficiency disease, severe combined immunodeficiency, X-linked agammaglobulinemia, spinal muscular atrophy, newborns, combined screening