Hauke G, Epplen J T, Gahr M, Hollmann A, Pfister S, Rump J A, Peter H H
Abteilung für Rheumatologie und Klinische Immunologie, Max-Planck-Institut für Psychiatrie, Martinsried.
Immun Infekt. 1989 Apr;17(2):53-5.
In a 64-year-old patient with typical common variable immunodeficiency (CVID) DNA prepared from peripheral blood lymphocytes (PBL) showed a prominent immunoglobulin heavy chain (IgH) gene rearrangement; the immunoglobulin light chain (IgL) genes were found to be in the germline configuration. In contrast, a 13-year-old girl with a hitherto unidentified immunodeficiency showed polyclonal IgH gene rearrangements and a dominant IgL gene rearrangement. In both cases neither monoclonal B-lymphocytes nor monoclonal immunoglobulins were detectable. Our explanation for this unusual observation is that V-gene use in a given B-cell is not entirely random. This may be the consequence of a maturation arrest of B-cells.
在一名64岁患有典型常见可变免疫缺陷（CVID）的患者中，从外周血淋巴细胞（PBL）制备的DNA显示出明显的免疫球蛋白重链（IgH）基因重排；发现免疫球蛋白轻链（IgL）基因处于种系构型。相比之下，一名13岁患有迄今未明确的免疫缺陷的女孩显示多克隆IgH基因重排和显性IgL基因重排。在这两种情况下，均未检测到单克隆B淋巴细胞或单克隆免疫球蛋白。我们对这一异常观察结果的解释是，给定B细胞中V基因的使用并非完全随机。这可能是B细胞成熟停滞的结果。
