TY - JOUR
T1 - Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation
T2 - Two case reports and review of the literature
AU - Lin, Sheng-Chieh
AU - Chiang, Bor-Luen
AU - Lee, Yuarn-Jang
AU - Chang, Ya-Ting
AU - Fang, Shiuh-Bin
N1 - Funding Information:
We thank Dr. Yin-Hsiu Chien and Hsin-Hui Yu for their assistance in the mutation study of the BTK gene, Dr. Suei-Tsau Tsai for his referral of the patients, and Dr. Ke-Chung Chang for his surgical care.
Publisher Copyright:
© 2020
PY - 2020/12
Y1 - 2020/12
N2 - 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.
AB - 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.
KW - Bruton tyrosine kinase
KW - Ecthyma gangrenosum
KW - Identical twins
KW - Pseudomonas aeruginosa sepsis
KW - X-linked agammaglo bulinemia
UR - http://www.scopus.com/inward/record.url?scp=85083662344&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85083662344&partnerID=8YFLogxK
U2 - 10.1016/j.jmii.2020.04.009
DO - 10.1016/j.jmii.2020.04.009
M3 - Article
C2 - 32340921
SN - 0253-2662
VL - 53
SP - 1030
EP - 1034
JO - Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
JF - Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
IS - 6
ER -
