Different penetrance of disseminated infections caused by nontuberculous Mycobacteria in Mendelian susceptibility to mycobacterial disease associated with a novel mutation

Pediatr Infect Dis J. 2014 Mar;33(3):328-30. doi: 10.1097/INF.0000000000000099.

Abstract

Deficiency in the interleukin12/INFgamma pathway is a genetic condition that predisposes to some infections, including nontuberculous mycobacteria infection and extraintestinal salmonellosis. We report 2 cases in sisters who were diagnosed with a genetic defect caused by a new mutation in Interleukin-12 receptor β1 chain (IL12Rβ1) leading to different clinical presentations and responses to therapy.

Publication types

  • Case Reports

MeSH terms

  • Antitubercular Agents / therapeutic use
  • Child
  • Child, Preschool
  • Female
  • Frameshift Mutation / genetics*
  • Host-Pathogen Interactions / genetics
  • Humans
  • Mycobacterium Infections, Nontuberculous / drug therapy
  • Mycobacterium Infections, Nontuberculous / genetics*
  • Mycobacterium Infections, Nontuberculous / immunology
  • Mycobacterium Infections, Nontuberculous / physiopathology*
  • Nontuberculous Mycobacteria*
  • Penetrance
  • Receptors, Interleukin-12 / genetics

Substances

  • Antitubercular Agents
  • IL12RB1 protein, human
  • Receptors, Interleukin-12