The diversity of clinical course and the pathogensis in primary antibody deficiency

x连锁无球蛋白血症（XLA）是由于b细胞分化所需的酪氨酸激酶BTK基因突变引起的。我们分析了2例XLA家族的4例患者的长期病程。家族1存在BTK基因错义突变（L111R）。先证者患有严重的感染，如胸膜炎和骨髓炎。由于幽门螺杆菌的机会性感染，他患上了胸膜炎。异常高水平的内毒素持续存在。在家族2中，BTK基因剪接供体位点（IVS11+ 3g >T）的突变导致了外显子11的跳变。先证者（38岁），未发生严重感染。表姐的先证者，都强制在家中每周皮下注射一次丙种球蛋白。家族2未见感染易感。即使有足够的谷IgG水平，临床病程在任何个案中都是可变的。

X-linked agammaglobulinemia (XLA) develops due to mutation of tyrosine kinase BTK gene essential for B-cell differentiation. We examined the long-term course of four cases in 2 XLA family. Family 1 had missense mutations (L111R) in the BTK gene. Proband was suffering from severe infection, such as pleurisy and osteomyelitis. He developed pleurisy as an opportunistic infection by Helicobacter bacteria. The abnormally high level of endotoxin persisted. In family 2 mutation of the splice donor site of the BTK gene (IVS11+3 G>T) caused the skipping of exon 11. Proband (38 years), have not developed serious infections. Cousin of the proband, are enforced at the home once a week gamma globulin subcutaneous injection. The susceptibility to infection is not observed in family 2. The clinical course was variable in any individual case even with enough trough IgG level.