Lefranc G, Chaabani H, Van Loghem E, Lefranc M P, De Lange G, Helal A N
Eur J Immunol. 1983 Mar;13(3):240-4. doi: 10.1002/eji.1830130312.
Simultaneous absence of the IgG1, IgG2, IgG4 and IgA1 immunoglobulins has been unambiguously demonstrated in a healthy 75-year-old woman by testing for allotypes, isoallotypes and for isotypes of these four subclasses. Only IgM, IgD, IgG3, IgA2 and IgE were present. The IgG3 levels were significantly increased. Family investigation showed inheritance of a haplotype Gm-;-;b A2m2. This person is homozygous for an extensive DNA deletion including the C gamma 1, C gamma 2, C gamma 4 and C alpha 1 genes.
通过对这四个亚类的同种异型、异同种异型和同型进行检测,在一名75岁健康女性中明确证实了IgG1、IgG2、IgG4和IgA1免疫球蛋白同时缺失。仅存在IgM、IgD、IgG3、IgA2和IgE。IgG3水平显著升高。家族调查显示存在单倍型Gm-;-;b A2m2的遗传。此人因包括Cγ1、Cγ2、Cγ4和Cα1基因在内的广泛DNA缺失而呈纯合状态。