Interleukin-12 Receptor β1 Deficiency Presenting as Recurrent Salmonella Infection

Abstract

We describe a child with interleukin-12 receptor β1 (IL-12Rβ1) 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-12Rβ1 deficiency diagnosed after isolated, recurrent salmonellosis.