
doi: 10.1086/375229
pmid: 12830418
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.
Male, Recurrence, Salmonella Infections, Receptors, Interleukin-12, Humans, Infant, Receptors, Interleukin, Gene Deletion
Male, Recurrence, Salmonella Infections, Receptors, Interleukin-12, Humans, Infant, Receptors, Interleukin, Gene Deletion
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