Weisdorf等人(1982)报道了一家三代22人中有10例(男女各5例)的本征家谱。患者自幼出现巨脾,伴有多种免疫异常,属常染色体隐性遗传疾病,其中8例伴轻度贫血,2例严重全血细胞减少。为了缓解巨脾的压迫症状,8例在少年期(即16个月～10岁),1例在21岁施行脾脏摘除手术,其重量为329～605g,并全部进行了病理检查,发现脾脏胚中心形成缺如或严重发育不全。术后有几例患者因肺炎球菌反复感染而发生败血症。多数患者淋巴细胞有丝分裂发生期(PHA,PWM)低下,2例呈Evans综合征(自身免疫性溶血性贫血-特发性血小板减少性紫癜综合征)样改变,1例给肾上腺皮质激素后发现脾脏缩小,对于贫血及血小 Weisdorf et al. (1982) reported an etiopathogenisis of 10 out of 22 patients in three generations (5 males and 5 females). Splenomegaly occurs splenomegaly, with a variety of immune abnormalities, is an autosomal recessive disease, of which 8 cases with mild anemia, 2 cases of severe pancytopenia. In order to relieve the symptoms of splenomegaly, 8 cases were performed splenectomy at the age of adolescence (16 months to 10 years) and 21 cases at the age of 21 years. The weight was 329 ~ 605g, and all of them were pathologically examined. Center for lack of or serious hypoplasia. Several patients after surgery because of pneumococcal repeated infection and sepsis. The majority of patients had low lymphocyte metaphase (PHA, PWM), 2 Evans syndrome (autoimmune hemolytic anemia - idiopathic thrombocytopenic purpura syndrome) -like changes, 1 case of adrenal cortex hormones and spleen Narrow, for anemia and blood