Nightingale S D, Pelley R P, Delaney N L, Bias W B, Hamburger M I, Fries L F, Steinberg A G
Am J Hum Genet. 1981 Sep;33(5):735-44.
This paper describes a family in which 10 members of 3 generations have IgM-IgG cryoglobulinemia. Their pedigree is characteristic of autosomal dominant inheritance. No underlying disease that could account for the cryoglobulinemia has been identified in any patient, and no linkage of the cryoglobulinemia to HLA-A and -B locus haplotypes, blood group antigens, or immunoglobulin Gm allotypes has been detected. The rheumatoid factors of this kindred react with some, but not all, human IgG; however, their rheumatoid factors are not antibodies to any known human Gm or Km allotype. This family demonstrates that "essential" mixed cryoglobulinemia can be inherited, and that the clinical manifestations of an inherited cryoglobulinemia may vary among family members.
本文描述了一个三代人中10名成员患有IgM-IgG冷球蛋白血症的家族。其系谱具有常染色体显性遗传的特征。在任何患者中均未发现可解释冷球蛋白血症的潜在疾病,且未检测到冷球蛋白血症与HLA-A和-B位点单倍型、血型抗原或免疫球蛋白Gm同种异型之间的连锁关系。该家族的类风湿因子与部分而非全部人类IgG发生反应;然而,其类风湿因子并非针对任何已知人类Gm或Km同种异型的抗体。这个家族表明“原发性”混合性冷球蛋白血症可呈遗传性,且遗传性冷球蛋白血症的临床表现可能在家庭成员间有所不同。