Hammarström L, Lönnqvist B, Ringdén O, Smith C I, Wiebe T
Lancet. 1985 Apr 6;1(8432):778-81. doi: 10.1016/s0140-6736(85)91446-1.
IgA deficiency developed in a 2-year-old boy with aplastic anaemia who received a bone-marrow graft from his HLA-identical, 6-year-old, IgA-deficient sister. Southern blot analysis revealed the presence of alpha-genes in both children, thus suggesting a defect of lymphocyte stem-cell differentiation as a cause of IgA deficiency. Tissue typing showed homozygosity of HLA A1, B8, DR3, the haplotype associated with IgA deficiency in healthy people. Despite normal serum levels of IgG subclasses in both donor and recipient, both children showed a relative lack of specific IgG2 anticarbohydrate antibodies. This suggests that their IgA deficiency is part of a more fundamental aberration of immunoglobulin class and subclass distribution.
一名患有再生障碍性贫血的2岁男孩接受了来自其6岁、HLA相同且IgA缺乏的姐姐的骨髓移植后，发生了IgA缺乏。Southern印迹分析显示两个孩子均存在α基因，因此提示淋巴细胞干细胞分化缺陷是IgA缺乏的原因。组织分型显示HLA A1、B8、DR3纯合子，该单倍型与健康人群的IgA缺乏相关。尽管供体和受体的血清IgG亚类水平正常，但两个孩子均表现出相对缺乏特异性IgG2抗碳水化合物抗体。这表明他们的IgA缺乏是免疫球蛋白类别和亚类分布更基本异常的一部分。
