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.
|Journal||Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi|
|Publication status||E-pub ahead of print - Apr 17 2020|