Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

Pediatrics. 2010 Oct;126(4):e971-6. doi: 10.1542/peds.2009-2504. Epub 2010 Sep 20.

Abstract

Patients with interleukin 12 (IL-12)p40 or IL-12 receptor β1 (IL12Rβ1) deficiencies are prone to develop infections caused by mycobacteria and salmonella; other infections have only been rarely observed. In this report we describe 2 unrelated patients with complete autosomal recessive IL12Rβ1 deficiency who suffered from sepsis attributable to Klebsiella pneumoniae. A Mexican boy suffered from disseminated bacille Calmette-Guérin disease and infections caused by K pneumoniae and Candida albicans and had a fatal outcome. A Turkish girl living in France suffered from disseminated Nocardia nova infection and K pneumoniae sepsis. Therefore, Klebsiella infections should be considered in patients with IL12Rβ1 deficiency. Conversely, IL12Rβ1 deficiency should be considered in patients with unexplained klebsiellosis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • BCG Vaccine / adverse effects
  • Candidiasis / complications
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Interleukin-12 Receptor beta 1 Subunit / genetics*
  • Klebsiella Infections / complications
  • Klebsiella Infections / genetics*
  • Klebsiella pneumoniae*
  • Male
  • Mutation*
  • Mycobacterium bovis
  • Nocardia Infections / complications
  • Sepsis / genetics*
  • Tuberculosis, Lymph Node / complications

Substances

  • BCG Vaccine
  • Interleukin-12 Receptor beta 1 Subunit