Interleukin-12 Receptor β1 Deficiency Presenting as Recurrent Salmonella Infection

Staretz-Haham, Orna; Melamed, Rimma; Lifshitz, Matitiahu; Porat, Nurith; Fieschi, Claire; Casanova, Jean Laurent; Levy, Jacov
July 2003
Clinical Infectious Diseases;7/1/2003, Vol. 37 Issue 1, p137
Academic Journal
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.


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