Berglund Lucinda J, Jones Graham J, Murali Rajmohan, Fulcher David A
Immunology Unit, Westmead Hospital, Westmead, Sydney, NSW, Australia.
J Allergy Clin Immunol. 2006 Apr;117(4):870-7. doi: 10.1016/j.jaci.2006.01.004. Epub 2006 Mar 9.
Mutations of the gene encoding the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), TNFSRF13B, have recently been described in patients with common variable immunodeficiency (CVID). We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. Although lymphoproliferation is well described in CVID, the key features in this patient included the T-cell origin of the lymphoproliferation, its polyclonal nature, its infiltration into multiple organs, and the presence of the TACI gene mutation.
编码肿瘤坏死因子受体家族成员跨膜激活剂和钙调蛋白及亲环素配体相互作用分子（TACI）的基因TNFSRF13B的突变，最近在常见变异型免疫缺陷（CVID）患者中被发现。我们报告了一例患有CVID并伴有杂合性TACI基因突变（C104R）的男性病例，该患者出现了一种非常罕见的、侵袭性的多克隆CD8 + T细胞淋巴增殖，导致肝脾肿大，并因浸润而造成肾功能损害。虽然淋巴增殖在CVID中已有充分描述，但该患者的关键特征包括淋巴增殖的T细胞起源、其多克隆性质、对多个器官的浸润以及TACI基因突变的存在。
