DEBILITATING PROGRESSIVE ENCEPHALITIS IN A PATIENT WITH BTK DEFICIENCY
DEBILITATING PROGRESSIVE ENCEPHALITIS IN A PATIENT WITH BTK DEFICIENCY
复制标题
DOI：
10.1556/amicr.59.2012.3.4
复制
发表时间：
2012-09-01
影响因子：
1.5
通讯作者：
Rezaei, Nima
中科院分区：
文献类型：
--
作者：
Mohammadzadeh, Iraj;Yeganeh, Mehdi;Rezaei, Nima
X连锁无丙种球蛋白血症(XLA)，又称Bruton氏酪氨酸激酶(BTK)缺乏症，是一种以B细胞数量减少、无丙种球蛋白血症和对多种感染易感性增加为特征的初级抗体缺乏症。在此，我们报告了一例确诊为BTK突变的XLA患者，其发生了神经功能缺陷。尽管进行了全面的检查，但我们没有检测到任何负责的微生物，但脑磁共振成像显示出中度的脑萎缩。此病人被诊断为进行性脑炎。与其他初级抗体缺乏症相比，XLA患者患脑炎的几率更高。鉴于脑炎的暴发性，这在XLA患者中是一个令人担忧的问题。
X-linked agammaglobulinemia (XLA), also known as Bruton's tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections. Herein, we report a case of XLA with confirmed BTK mutation that developed neurological deficits. While we could not detect any responsible microorganism in spite of comprehensive workup, brain magnetic resonance imaging revealed moderate brain atrophy. The diagnosis of progressive encephalitis was made for this patient. Patients with XLA have a higher chance of encephalitis compared with other primary antibody deficiencies. Given the violent nature of encephalitis, it is a concern among XLA patients.