How BANK1 pathway defects in B cells cause human lupus

每20个澳大利亚人中就有1人患有自身免疫性疾病，而且无法治愈。为了找到有效的治疗方法，我们需要了解导致人类疾病的基因。我们已经对自身免疫性疾病患者的整个基因组进行了测序，发现一些患者携带两个对B细胞活化重要的基因突变，并表明这些突变导致疾病。我们计划了解这些基因如何预防自身免疫，并确定对这些突变患者的最佳治疗方法。

Autoimmune diseases affect 1 in 20 Australians and are incurable. To find effective therapies, we need to understand the genes that cause disease in humans. We have sequenced the entire genome of patients with an autoimmune disease and found several patients carrry two mutations in genes important for activation of B cells and shown these mutations cause disease. We plan to understand how these genes prevent autoimmunity, and to identify the best treatment for patients with these mutations.