title: Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection.
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.
authors.affiliation: Pediatric Department, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel 84101.
authors.forename: Orna
authors.initials: O
authors.lastname: Staretz-Haham
authors.forename: Rimma
authors.initials: R
authors.lastname: Melamed
authors.forename: Matitiahu
authors.initials: M
authors.lastname: Lifshitz
authors.forename: Nurith
authors.initials: N
authors.lastname: Porat
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Jean Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Jacov
authors.initials: J
authors.lastname: Levy
mesh_terms: D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D053707:Receptors, Interleukin-12; D012008:Recurrence; D012480:Salmonella Infections / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
chemical_list: C508438:IL12RB1 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12