Article
Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene.
Asian Pacific journal of allergy and immunology - 1 Mar 2012
Jirapongsananuruk Orathai, Luangwedchakarn Voravich, Niemela Julie E, Pacharn Punchama, Visitsunthorn Nualanong, Thepthai Charin, Vichyanond Pakit, Piboonpocanun Surapon, Fleisher Thomas A
Abstract excerpt
The IL-12p40/IL-12Rbeta1 and IFN-gammaR1/IFN-gammaR2/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-12Rbeta1 deficiency is the most common defect and leads to infections with Salmonella and Mycobacterium spp. We report a child who presented with Cryptococcal...
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