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本文介绍导致人类３种性联免疫缺陷症的特异性基因缺陷，其中无γ球蛋白血症（ＸＬＡ）由编码Ｂ细胞的特异性的酪氨酸激酶（ＢＴＫ）基因突变所致。高ＩｇＭ综合征（ＨＩＧＭ）系编码Ｔ细胞ＣＤ４０配体（ＣＤ４０Ｌ）基因突变引起，而严重联合免疫缺陷症（ＸＳＣＴＤ）则源自编码ＩＬ－２受体Ｖ链基因的突变，对这些患者分析所得的结果，既对遗传学诊断和处理该类疾病有所启迪，又是分析相关蛋白分子功能区和了解基因产物生理功能的重要资料。
This article describes specific genetic defects that result in three human immunodeficiency virus linked immunodeficiency syndromes in which absence of gamma globulinase (XLA) is caused by a mutation in the specific tyrosine kinase (BTK) gene encoding B cells. High IgM syndrome (HIGM) is caused by a mutation in the gene encoding CD40 ligand (CD40L) on T cells while the severe combined immunodeficiency syndrome (XSCTD) is derived from a mutation in the V chain gene encoding IL-2 receptor. Analysis of these patients The results, not only for genetic diagnosis and treatment of these diseases have enlightenment, but also to analyze the functional areas of protein molecules and understand the physiological function of gene products important information.