Mohammadzadeh Iraj, Yeganeh Mehdi, Khaledi Mojdeh, Salehiomran Mohammad Reza, Aghamohammadi Asghar, Rezaei Nima
Babol University of Medical Sciences, Non-Communicable Pediatric Diseases Research Center, Babol, Iran.
Acta Microbiol Immunol Hung. 2012 Sep;59(3):335-42. doi: 10.1556/AMicr.59.2012.3.4.
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.
X连锁无丙种球蛋白血症（XLA），也称为布鲁顿酪氨酸激酶（BTK）缺乏症，是一种原发性抗体缺陷病，其特征是B细胞数量减少、无丙种球蛋白血症以及对多种感染的易感性增加。在此，我们报告一例确诊为BTK突变的XLA患者出现神经功能缺损。尽管进行了全面检查，但我们未检测到任何致病微生物，脑磁共振成像显示中度脑萎缩。该患者被诊断为进行性脑炎。与其他原发性抗体缺陷患者相比，XLA患者患脑炎的几率更高。鉴于脑炎的严重性，这是XLA患者所担忧的问题。
