X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA. In both cases, we confirmed the c.862C > T BTK missense mutation in exon 10 at the SH2 domain.
|期刊||Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi|
|出版狀態||打印前電子出版 - 四月 17 2020|
Lin, S-C., Chiang, B-L., Lee, Y-J., Chang, Y-T., & Fang, S-B. (2020). Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation: Two case reports and review of the literature. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi. https://doi.org/10.1016/j.jmii.2020.04.009