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

doi:10.1016/j.jmii.2020.04.009

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

J Microbiol Immunol Infect. 2020 Dec;53(6):1030-1034. doi: 10.1016/j.jmii.2020.04.009. Epub 2020 Apr 17.

Authors

Sheng-Chieh Lin¹, Bor-Luen Chiang², Yuarn-Jang Lee³, Ya-Ting Chang⁴, Shiuh-Bin Fang⁵

Affiliations

¹ Department of Pediatrics, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
² Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
³ Division of Infectious Disease, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan.
⁴ Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, Taiwan Adventist Hospital, Taipei, Taiwan.
⁵ Department of Pediatrics, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address: sbfang@tmu.edu.tw.

PMID: 32340921
DOI: 10.1016/j.jmii.2020.04.009

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.

Keywords: Bruton tyrosine kinase; Ecthyma gangrenosum; Identical twins; Pseudomonas aeruginosa sepsis; X-linked agammaglo bulinemia.

Publication types

Case Reports
Review

MeSH terms

Agammaglobulinaemia Tyrosine Kinase / genetics*
Agammaglobulinemia / genetics
Agammaglobulinemia / immunology
Agammaglobulinemia / pathology
Genetic Diseases, X-Linked / genetics
Genetic Diseases, X-Linked / immunology
Genetic Diseases, X-Linked / pathology
Humans
Infant
Male
Mouth Mucosa / microbiology
Mouth Mucosa / pathology*
Pseudomonas Infections / diagnosis*
Pseudomonas Infections / pathology
Pseudomonas aeruginosa / isolation & purification
Sepsis / diagnosis*
Sepsis / microbiology
Skin Diseases, Bacterial / diagnosis*
Skin Diseases, Bacterial / microbiology
Skin Diseases, Bacterial / pathology
Twins

Substances

Agammaglobulinaemia Tyrosine Kinase
BTK protein, human

Supplementary concepts

Bruton type agammaglobulinemia