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|Title:||Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene|
Julie E. Niemela
Thomas A. Fleisher
NIH Clinical Center
|Keywords:||Immunology and Microbiology;Medicine|
|Citation:||Asian Pacific Journal of Allergy and Immunology. Vol.30, No.1 (2012), 79-82|
|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.|
|Appears in Collections:||Scopus 2011-2015|
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