Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency

Clin Infect Dis. 2003 Jul 15;37(2):302-6. doi: 10.1086/375587. Epub 2003 Jul 7.

Abstract

We describe 3 siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guérin (BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rbeta1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • BCG Vaccine
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Mycobacterium*
  • Receptors, Interleukin / deficiency*
  • Receptors, Interleukin / genetics
  • Receptors, Interleukin / metabolism
  • Receptors, Interleukin-12
  • Salmonella Infections / genetics
  • Salmonella Infections / metabolism
  • Salmonella Infections / physiopathology
  • Tuberculosis / genetics
  • Tuberculosis / metabolism*
  • Tuberculosis / physiopathology

Substances

  • BCG Vaccine
  • IL12RB1 protein, human
  • Receptors, Interleukin
  • Receptors, Interleukin-12