Publication: Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene
Issued Date
2012-03-01
Resource Type
ISSN
22288694
0125877X
0125877X
Other identifier(s)
2-s2.0-84858764657
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Mahidol University
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SCOPUS
Bibliographic Citation
Asian Pacific Journal of Allergy and Immunology. Vol.30, No.1 (2012), 79-82
Suggested Citation
Orathai Jirapongsananuruk, Voravich Luangwedchakarn, Julie E. Niemela, Punchama Pacharn, Nualanong Visitsunthorn, Charin Thepthai, Pakit Vichyanond, Surapon Piboonpocanun, Thomas A. Fleisher Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene. Asian Pacific Journal of Allergy and Immunology. Vol.30, No.1 (2012), 79-82. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/14352
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Title
Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene
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Abstract
The IL-12p40/IL-12Rβ1 and IFN-γR1/IFN-γR2/STAT1 signaling pathways are important for clearing intracellular bacteria. Genetic defects within these pathways are associated with increased susceptibility to intracellular pathogens. Among these, IL-12Rβ1 deficiency is the most common defect and leads to infections with Salmonella and Mycobacterium spp. We report a child who presented with Cryptococcal osteomyelitis and history of disseminated Mycobacterial infection and recurrent Salmonella septicemia. Flow cytometry showed defective expression of IL-12Rβ1. Mutation analysis revealed a novel compound heterozygous mutation of IL12RB1, c.625C > T, p.Q209X was found in exon 7 on the paternal allele and c.710delC, p.P237HfsX5 was found in exon 8 on the maternal allele. As these mutations each result in a stop codon before the last spliceable exon, the transcripts likely underwent nonsense mediated decay, leading to a lack of IL12Rβ1 expression on the cell surface and eradicating signaling via the IL12 signaling pathway.