Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
Departamento Inmunología Clínica, Centro Médico Nacional del Noreste, Unidad de alta especialidad IMSS 25, Monterrey, NL, Mexico.
Clin Immunol. 2016 Apr;165:38-44. doi: 10.1016/j.clim.2016.02.010. Epub 2016 Mar 4.
X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA. Four novel mutations were identified, one of these located in the previously reported mutation refractory SH3 domain. Clinical data support previous reports accounting for frequent respiratory, gastrointestinal tract infections and other symptoms such as the occurrence of reactive arthritis in 19.2% of the patients. An equal proportion of patients developed septic arthritis; missense mutations and mutations in SH1, SH2 and PH domains predominated in patients who developed arthritis.
X 连锁无丙种球蛋白血症（XLA）是由 BTK 突变引起的，患者通常表现为外周血 B 细胞<2%，所有免疫球蛋白水平降低；他们易发生细菌性感染；然而，也有报道称他们易发生病毒性感染、自身免疫样疾病和胃癌风险增加。在这项工作中，我们报告了 12 名 XLA 患者的 BTK 突变和临床特征。此外，我们还对以前报道的 XLA 患者的另一组病例进行了临床复习。发现了 4 种新的突变，其中一种位于以前报道的突变耐药 SH3 结构域。临床数据支持以前的报道，即经常发生呼吸道和胃肠道感染以及其他症状，如 19.2%的患者发生反应性关节炎。同样比例的患者发生化脓性关节炎；在发生关节炎的患者中，错义突变和 SH1、SH2 和 PH 结构域的突变占主导地位。
