X-linked agammaglobulinemia (XLA, OMIM #300755) is one of the most common pediatric primary immunodeficiencies characterized by failure to produce mature B lymphocytes and hypogammaglobulinemia, caused by mutation of the gene encoding Bruton's tyrosine kinase (BTK, OMIM *300300), a key regulator in B-cell development. Patients suffering XLA are prone to recurrent bacterial infection. We established an induced pluripotent stem cells (iPSCs) line from a 3-year-5-month-old boy with XLA caused by a hemizygous in-frame 9-bp deletion in BTK (c.1530-1538delATACCTGGA, p.Y510_E513delEYLEinsE). The iPSCs was verified based on pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.

X连锁性丙种球蛋白血症（XLA，OMIM＃300755）是最常见的儿科原发性免疫缺陷病之一，其特征是由于编码布鲁顿酪氨酸激酶（BTK，OMIM * 300300）的基因突变导致无法产生成熟的B淋巴细胞和低丙种球蛋白血症B细胞开发的关键调节剂。患有XLA的患者容易复发细菌感染。我们从3岁5个月大的XLA男孩中建立了诱导多能干细胞（iPSC）系，该男孩由BTK中半合子框内9 bp缺失引起（c.1530-1538delATACCTGGA，p.Y510_E513delEYLEinsE）。基于多能性标记，原始基因突变并在体外证实了三系分化潜能，证实了iPSC。