JOURNAL OF TROPICAL PEDIATRICS, vol.52, no.4, pp.296-298, 2006 (SCI-Expanded)
Interleukin-12 receptor beta 1 (IL12RB1) deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous; mutation in this gene, who presented with recurrent bacteremia caused by Salmonella spp.