Fernández Romero Diego S, Juri María Cecilia, Paolini María Virginia, Malbrán Alejandro
Unidad de Alergia, Asma e Inmunología Clínica, Hospital Británico de Buenos Aires, Argentina.
Medicina (B Aires). 2011;71(4):350-6.
Antibody deficiency (AD) comprises a group of diseases characterized by the inability to develop an effective antibody mediated immune response. These patients suffer mainly of encapsulated extracellular bacterial infections of the respiratory tract. The aim of our study was to describe the clinical characteristics of 128 patients with suspected or confirmed AD who were referred to 3 immunodeficiency centers for adults, from June 2004 to December 2009. Three of these patients (2.3%) consulted for recurrent infections only once, without sufficient data for a proper classification, and were excluded. Of the remaining 125 patients, in 21 (16.8%) AD was excluded, 8 cases (6.4%) were diagnosed with secondary antibody immunodeficiency (SAD) and 96 (76.8%) with primary antibody immunodeficiency (PAD). SAD causes were: one renal failure, one phenytoin use, two monoclonal gammopathy and four B cell lymphoma. The causes of these 96 PAD were: 57 common variable immunodeficiency, 12 X-linked agammaglobulinaemia, 10 selective IgA deficiency, seven IgG1 deficiency, three hyper-IgM syndrome, three IgM deficiency, two X-linked proliferative syndrome, one Good syndrome and one antibody functional deficiency. Sixty-seven patients were in follow up at the time of completion of the study, 25 of them were on follow up at the beginning of the study. Among the 58 patients with indication of gamma globulin replacement therapy, 54 were in treatment at the end of the study. In four patients the initial diagnosis of PAD was not confirmed.
抗体缺陷(AD)包括一组以无法产生有效的抗体介导免疫反应为特征的疾病。这些患者主要遭受呼吸道的包膜细胞外细菌感染。我们研究的目的是描述2004年6月至2009年12月期间被转诊至3个成人免疫缺陷中心的128例疑似或确诊为AD的患者的临床特征。其中3例患者(2.3%)仅因反复感染前来咨询过一次,没有足够的数据进行恰当分类,故被排除。在其余125例患者中,21例(16.8%)排除了AD,8例(6.4%)被诊断为继发性抗体免疫缺陷(SAD),96例(76.8%)为原发性抗体免疫缺陷(PAD)。SAD的病因有:1例肾衰竭、1例使用苯妥英、2例单克隆丙种球蛋白病和4例B细胞淋巴瘤。这96例PAD的病因有:57例常见可变免疫缺陷、12例X连锁无丙种球蛋白血症、10例选择性IgA缺乏、7例IgG1缺乏、3例高IgM综合征、3例IgM缺乏、2例X连锁增殖性综合征、1例古德综合征和1例抗体功能缺陷。在研究完成时有67例患者在随访中,其中25例在研究开始时就已在随访中。在58例有γ球蛋白替代治疗指征的患者中,54例在研究结束时正在接受治疗。有4例患者最初的PAD诊断未得到证实。