重症联合免疫缺陷病(SCID)是联合免疫缺陷病中最严重的类型。SCID是由于许多分子的缺陷,从而严重影响到T淋巴细胞、B淋巴细胞的数量和功能,也可影响自然杀伤细胞,导致体液免疫、细胞免疫同时存在严重缺陷。现主要介绍SCID的发病率、临床表现及实验室检查特点,同时对SCID在发病机制及治疗方面的研究进展进行阐述。 Severe combined immunodeficiency disease (SCID) is the most severe type of combined immunodeficiency disease. SCID is due to many molecular defects, which seriously affect the T lymphocytes, B lymphocytes in the number and function, but also affect natural killer cells, leading to humoral immunity, cellular immunity, while serious flaws. Now mainly introduces the incidence of SCID, clinical manifestations and laboratory features, and at the same time, SCID in the pathogenesis and treatment of research advances are described.