Kirkpatrick等人曾报道家族性低丙种球蛋白血症,特别在家族父系有低IgM作标记。另一研究证明,在患有原发性抗体缺乏的家族,Gm基因表达有定量的缺乏。然而,这些研究都不能阐明遗传的特定方式。本文作者在一个人口众多的家族中,发现一位先证者患有总低丙种球蛋白血症,并患有α_1抗胰蛋白酶缺乏症。因此,作者在这位先证者有亲属关系的7个家庭(包括先证者的父母、父亲的伯伯一家三代、父亲的姑母一家三代和母亲的姑母一家三代等)、31位成员(其中27位是亲属,4位配偶无亲属关系)中,研究了血清免疫球蛋白和蛋白酶抑制剂(Pi)表型,以确定家族性低丙种球蛋 Kirkpatrick et al. Have reported familial hypogammaglobulinemia, particularly in families with low IgM markers. Another study demonstrated that there is a quantitative lack of Gm gene expression in families with a primary antibody deficiency. However, none of these studies elucidate a particular way of inheritance. In a family with a large population, the authors found that a proband had total hypogammaglobulinemia and had α_1 antitrypsin deficiency. Therefore, the author has 7 relatives (including the proband’s parents, his father’s uncle 3 generations, his father’s aunt 3 generations and his mother’s aunt 3 generations), 31 members (of which 27 Bit relatives, and no relationship between four spouses), serum immunoglobulin and protease inhibitor (Pi) phenotypes were studied to determine familial low gamma globulin