1. A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand.
- Author
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Luangwedchakarn V, Jirapongsaranuruk O, NiemeLa JE, Thepthai C, Chokephaibulkit K, Sukpanichnant S, Pacharn P, Visitsunthorn N, Vichyanond P, Piboonpocanun S, and Fleisher TA
- Subjects
- Child, Codon, Nonsense genetics, DNA Mutational Analysis, Exons, Genetic Predisposition to Disease, Humans, Male, Neurofibromatosis 1 complications, Neurofibromatosis 1 diagnosis, Neurofibromatosis 1 immunology, Nocardia pathogenicity, Nocardia Infections complications, Nocardia Infections diagnosis, Nocardia Infections immunology, Polymorphism, Genetic, Receptors, Interleukin-12 deficiency, Receptors, Interleukin-12 immunology, Recurrence, Salmonella pathogenicity, Salmonella Infections complications, Salmonella Infections diagnosis, Salmonella Infections immunology, Thailand, Tuberculosis, Lymph Node complications, Tuberculosis, Lymph Node diagnosis, Tuberculosis, Lymph Node immunology, Virulence, Neurofibromatosis 1 genetics, Nocardia immunology, Nocardia Infections genetics, Receptors, Interleukin-12 genetics, Salmonella immunology, Salmonella Infections genetics, Tuberculosis, Lymph Node genetics
- 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.
- Published
- 2009