Abstract
Interleukin-12 receptor beta1 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.
MeSH terms
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Bacteremia / metabolism
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Bacteremia / microbiology*
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Child, Preschool
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Female
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Humans
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Receptors, Interleukin / deficiency*
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Receptors, Interleukin / genetics
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Receptors, Interleukin-12
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Salmonella / isolation & purification*
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Salmonella Infections / genetics
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Salmonella Infections / metabolism*
Substances
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IL12RB1 protein, human
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Receptors, Interleukin
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Receptors, Interleukin-12