McKinley R A, Kwan Y L, Lam-po-Tang P R
Department of Haematology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Br J Haematol. 1987 Dec;67(4):393-6. doi: 10.1111/j.1365-2141.1987.tb06159.x.
Familial splenomegaly is a rare occurrence and is occasionally associated with immune abnormalities. We report three members of a family with massive splenomegaly associated with a reduction in circulating T helper cells, a reversed T4/T8 ratio and cutaneous anergy. The spleen and lymph nodes were shown in one family member to have germinal centre hypoplasia with T helper cells being present in normal numbers and distribution in these tissues. Various abnormalities of immunoglobulins were also noted. Despite the demonstrated immune abnormalities, the affected subjects showed few serious consequences. The pathogenesis of this disorder is unclear but we postulate it may involve a functional defect of the T helper cell. This defect probably is responsible both for the diminished circulating capacity of T helper cells as well as a reduced ability to aid in the formation of germinal centres.
家族性脾肿大是一种罕见病症，偶尔与免疫异常有关。我们报告了一个家族的三名成员，他们患有巨大脾肿大，伴有循环T辅助细胞减少、T4/T8比例倒置和皮肤无反应性。在一名家族成员中，脾脏和淋巴结显示生发中心发育不全，这些组织中T辅助细胞数量和分布正常。还注意到免疫球蛋白的各种异常。尽管存在已证实的免疫异常，但受影响的个体几乎没有出现严重后果。这种疾病的发病机制尚不清楚，但我们推测它可能涉及T辅助细胞的功能缺陷。这种缺陷可能既是T辅助细胞循环能力下降的原因，也是生发中心形成能力降低的原因。
