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Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection
Orna Staretz-Haham1, Rimma Melamed, Matitiahu Lifshitz
1Pediatric Department, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel 84101.
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.