James S P, Jones E A, Schafer D F, Hoofnagle J H, Varma R R, Strober W
Gastroenterology. 1986 Feb;90(2):283-8. doi: 10.1016/0016-5085(86)90922-4.
A family is described in which multiple members are afflicted with liver disease and primary biliary cirrhosis (PBC). In the third generation, one member died of PBC, and a second individual has both symptomatic PBC and selective immunoglobulin A (IgA) deficiency, an association not previously reported. By culturing this patient's lymphocytes in vitro it was shown that the IgA deficiency was due to a failure of B cells to secrete IgA. Two other siblings of this patient have multiple serum biochemical and serologic abnormalities that are sometimes associated with PBC, but they do not have histopathologically overt PBC or IgA deficiency. All three surviving family members have a diminished autologous mixed lymphocyte reaction, an immunologic abnormality that has previously been found in patients with PBC, selective IgA deficiency, and several autoimmune diseases. As there is an association between selective IgA deficiency and certain autoimmune diseases, it is possible that this immunodeficiency contributed to the development of PBC in the patient in whom the two diseases coexisted. Furthermore, the occurrence of PBC in a patient with selective IgA deficiency indicates that the pathogenesis of PBC does not require IgA-dependent immune mechanisms.
本文描述了一个家族，其中多名成员患有肝脏疾病和原发性胆汁性肝硬化（PBC）。在第三代中，一名成员死于PBC，另一名个体同时患有症状性PBC和选择性免疫球蛋白A（IgA）缺乏症，这种关联此前未见报道。通过体外培养该患者的淋巴细胞，发现IgA缺乏是由于B细胞无法分泌IgA所致。该患者的另外两名兄弟姐妹有多种血清生化和血清学异常，这些异常有时与PBC相关，但他们没有组织病理学上明显的PBC或IgA缺乏症。所有三名存活的家族成员自体混合淋巴细胞反应均减弱，这是一种免疫异常，此前在PBC患者、选择性IgA缺乏症患者和几种自身免疫性疾病患者中均有发现。由于选择性IgA缺乏与某些自身免疫性疾病之间存在关联，因此这种免疫缺陷可能促成了两种疾病并存患者中PBC的发展。此外，选择性IgA缺乏症患者发生PBC表明，PBC的发病机制不需要依赖IgA的免疫机制。
