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

Sheng-Chieh Lin, Bor-Luen Chiang, Yuarn-Jang Lee, Ya-Ting Chang, Shiuh-Bin Fang

研究成果: 雜誌貢獻文章

摘要

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.

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