Bejaoui M, Barbouche M R, Mellouli F, Tirellil N, Dellagi K
Centre National de Greffe de Moelle osseuse, Tunis, Tunisie.
Presse Med. 1998 Mar 28;27(12):562-6.
Agammaglobulinemia with absence of circulating B lymphocytes is a rare genetically transmitted immunodeficiency that appears in early childhood and affect mainly boys. The clinical manifestations of the disease are rather heterogeneous.
Nine patients (7 boys and 2 girls) were diagnosed as suffering from agammaglobulinemia with absence of circulating B lymphocytes, over a period of 6 years. Quantitation of immunoglobulins and search for circulating B lymphocytes were respectively performed by the Mancini method and immunofluorescence using T specific (anti-CD3, anti-CD4 and anti-CD8) and B (anti-CD19) monoclonal antibody.
The disease started to manifest clinically at the mean age of 8.7 months (4-16 months). The mean age at diagnosis is 4 years (1-11 years). The clinical manifestations were essentially recurrent infections of the lung and the gastrointestinal tract. However, bacterial meningitidis was observed in 3 patients. Severe complications such as an echovirus 27 meningoencephalitis and a chronic active hepatitis (1 patient) and a pericarditis (1 patient) were observed. All of our patients lacked circulating B lymphocytes and had low or null immunoglobulin levels. Five patients were treated by intravenous immunoglobulin (Ig) and 3 were treated by intramuscular immunoglobulin with a residual IgG level respectively of 5.5 g/l and 3.3 g/l.
Recurrent infections are the principal manifestation of the agammaglobulinemia, early Ig treatment is the only therapy allowing improved.
无循环B淋巴细胞的无丙种球蛋白血症是一种罕见的遗传性免疫缺陷病，多见于儿童早期，主要影响男性。该疾病的临床表现较为多样。
在6年时间里，9例患者（7例男性和2例女性）被诊断为无循环B淋巴细胞的无丙种球蛋白血症。分别采用曼西尼法和免疫荧光法，使用T特异性（抗CD3、抗CD4和抗CD8）和B（抗CD19）单克隆抗体对免疫球蛋白进行定量分析并检测循环B淋巴细胞。
该病临床症状开始出现的平均年龄为8.7个月（4 - 16个月）。诊断时的平均年龄为4岁（1 - 11岁）。临床表现主要为肺部和胃肠道的反复感染。然而，3例患者出现了细菌性脑膜炎。还观察到严重并发症，如1例患者发生肠道病毒27型脑膜脑炎、1例患者出现慢性活动性肝炎以及1例患者出现心包炎。所有患者均缺乏循环B淋巴细胞，免疫球蛋白水平低或为零。5例患者接受静脉注射免疫球蛋白（Ig）治疗，3例患者接受肌肉注射免疫球蛋白治疗，残余IgG水平分别为5.5 g/l和3.3 g/l。
反复感染是无丙种球蛋白血症的主要表现，早期进行Ig治疗是唯一能改善病情的疗法。
