Abstract
An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Child
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Female
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Genetic Predisposition to Disease
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Humans
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Mutation
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Protein Subunits / deficiency
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Protein Subunits / genetics
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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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Tuberculosis / diagnosis*
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Tuberculosis / genetics
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Tuberculosis / pathology
Substances
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Protein Subunits
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Receptors, Interleukin
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Receptors, Interleukin-12