Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

Clin Infect Dis. 2003 Jul 1;37(1):137-40. doi: 10.1086/375229. Epub 2003 Jun 24.

Abstract

We describe a child with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species. No mycobacterial disease or other unusual infection was present. The episodes of salmonellosis were caused by an identical serovar during a period of 18 months. This is the first case of inherited IL-12Rbeta1 deficiency diagnosed after isolated, recurrent salmonellosis.

Publication types

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

MeSH terms

  • Gene Deletion
  • Humans
  • Infant
  • Male
  • Receptors, Interleukin / deficiency
  • Receptors, Interleukin / genetics
  • Receptors, Interleukin / metabolism*
  • Receptors, Interleukin-12
  • Recurrence
  • Salmonella Infections / genetics
  • Salmonella Infections / immunology
  • Salmonella Infections / metabolism*

Substances

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