原发性免疫缺陷病新生儿筛查

摘要

随着分子诊断技术的不断提高,原发性免疫缺陷病的新生儿筛查项目越来越普及.重症联合免疫缺陷病新生儿筛查的成功开展,为其他原发性免疫缺陷病的广泛筛查奠定了良好基础.具体包括无丙种球蛋白血症及家族性噬血细胞淋巴组织细胞增生症等.文章通过回忆新生儿疾病筛查的发展历史,总结目前原发性免疫缺陷病筛查概况,旨在为临床医师提供参考,推行我国原发性免疫缺陷病筛查项目,降低该类疾病的发病率及致死率.%With the improvement of molecular technology,newborn screening for primary immunodeficiencies is getting widespread.The paradigm of SCID screening itself will promote future research on preventive medicine for other primary immunodeficiencies,including,but not limited to,inherited agammaglobulinaemias and familial hemophagocytic lymphohistiocytosis.Here we review associated papers and recent screening outcomes ant offer reference frame for PID NBS in our country,in order to decrease the morbidity and mortality of PID.