Abstract
Genetic defects of interleukin (IL)-12/23-and interferon (IFN)-gamma-mediated immunity can cause increased susceptibility to intracellular microbes. Among these defects, a mutation of the gene encoding the IL-12 receptor beta1 (IL-12Rbeta1) is the most common worldwide. A 12-year old Thai boy with pre-existing neurofibromatosis type 1 (NF1) was evaluated for primary immunodeficiency after a history of tuberculous lymphadenitis, recurrent Salmonella infections and nocardiosis. Flow cytometry of phytohemagglutinin (PHA)-stimulated peripheral blood mononuclear cells (PBMCs) revealed a defect in the IL-12Rbeta1 surface expression. A genetic study showed a novel nonsense homozygous mutation of the IL12RB1 gene in exon 4 (402C > A), confirming the diagnosis of IL-12Rbeta1 deficiency. This is the first case report of a primary IL-12Rbeta1 deficiency in Thailand with the interesting finding of a coexisting NF1.
MeSH terms
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Child
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Codon, Nonsense / genetics
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DNA Mutational Analysis
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Exons
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Genetic Predisposition to Disease
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Humans
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Male
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Neurofibromatosis 1 / complications
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Neurofibromatosis 1 / diagnosis
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Neurofibromatosis 1 / genetics*
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Neurofibromatosis 1 / immunology
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Nocardia / immunology*
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Nocardia / pathogenicity
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Nocardia Infections / complications
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Nocardia Infections / diagnosis
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Nocardia Infections / genetics*
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Nocardia Infections / immunology
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Polymorphism, Genetic
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Receptors, Interleukin-12 / deficiency
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Receptors, Interleukin-12 / genetics*
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Receptors, Interleukin-12 / immunology
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Recurrence
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Salmonella / immunology*
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Salmonella / pathogenicity
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Salmonella Infections / complications
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Salmonella Infections / diagnosis
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Salmonella Infections / genetics*
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Salmonella Infections / immunology
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Thailand
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Tuberculosis, Lymph Node / complications
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Tuberculosis, Lymph Node / diagnosis
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Tuberculosis, Lymph Node / genetics*
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Tuberculosis, Lymph Node / immunology
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Virulence
Substances
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Codon, Nonsense
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IL12RB1 protein, human
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Receptors, Interleukin-12