| Literature DB >> 32340921 |
Sheng-Chieh Lin1, Bor-Luen Chiang2, Yuarn-Jang Lee3, Ya-Ting Chang4, Shiuh-Bin Fang5.
Abstract
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.Entities:
Keywords: Bruton tyrosine kinase; Ecthyma gangrenosum; Identical twins; Pseudomonas aeruginosa sepsis; X-linked agammaglo bulinemia
Mesh:
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Year: 2020 PMID: 32340921 DOI: 10.1016/j.jmii.2020.04.009
Source DB: PubMed Journal: J Microbiol Immunol Infect ISSN: 1684-1182 Impact factor: 4.399