Publication: A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: First case report from Thailand
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Issued Date
2009-06-01
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ISSN
0125877X
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2-s2.0-70350743107
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Mahidol University
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SCOPUS
Bibliographic Citation
Asian Pacific Journal of Allergy and Immunology. Vol.27, No.2-3 (2009), 161-165
Suggested Citation
Voravich Luangwedchakarn, Orathai Jirapongsaranuruk, Julie E. Niemela, Charin Thepthai, Kulkanya Chokephaibulkit, Sanya Sukpanichnant, Punchama Pacharn, Nualanong Visitsunthorn, Pakit Vichyanond, Surapon Piboonpocanun, Thomas A. Fleisher A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: First case report from Thailand. Asian Pacific Journal of Allergy and Immunology. Vol.27, No.2-3 (2009), 161-165. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/27708
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Title
A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: First case report from Thailand
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Abstract
Genetic defects of interleukin (IL)-12/23-and interferon (IFN)-γ-mediated immunity can cause increased susceptibility to intracellular microbes. Among these defects, a mutation of the gene encoding the IL-12 receptor β1 (IL-12Rβ1) 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-12Rβ1 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-12Rβ1 deficiency. This is the first case report of a primary IL-12Rβ1 deficiency in Thailand with the interesting finding of a coexisting NF1.