title: X-linked agammaglobulinemia combined with juvenile idiopathic arthritis and invasive Klebsiella pneumoniae polyarticular septic arthritis.
abstract: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton's tyrosine kinase (BTK) gene. XLA can also present in combination with juvenile idiopathic arthritis (JIA), the major chronic rheumatologic disease in children. We report herein the first known case of a juvenile patient diagnosed with XLA combined with JIA that later developed into invasive Klebsiella pneumoniae polyarticular septic polyarthritis. An additional comprehensive review of XLA combined with JIA and invasive K. pneumoniae septic arthritis is also presented. XLA was identified by the detection of BTK mutations while the diagnosis of JIA was established by clinical and laboratory assessments. Septic arthritis caused by invasive K. pneumoniae was confirmed by culturing of the synovia and gene detection of the isolates. Invasive K. pneumoniae infections can not only result in liver abscesses but also septic arthritis, although this is rare. XLA combined with JIA may contribute to invasive K. pneumoniae infection.
authors.affiliation: Department of Rheumatology, Zhejiang Provincial People's Hospital, 158 Shangtang Rd, Hangzhou, 310014, Zhejiang, China.
authors.forename: Zaihua
authors.initials: Z
authors.lastname: Zhu
authors.forename: Yuli
authors.initials: Y
authors.lastname: Kang
authors.forename: Zhenlang
authors.initials: Z
authors.lastname: Lin
authors.forename: Yanjing
authors.initials: Y
authors.lastname: Huang
authors.forename: Huoyang
authors.initials: H
authors.lastname: Lv
authors.forename: Yasong
authors.initials: Y
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000361:Agammaglobulinemia / Q000150:complications*; D001170:Arthritis, Infectious / Q000150:complications*; D001171:Arthritis, Juvenile / Q000150:complications*; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D006801:Humans; D007710:Klebsiella Infections / Q000150:complications*; D007711:Klebsiella pneumoniae; D008297:Male