Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene

• Main Authors: Orathai Jirapongsananuruk, Voravich Luangwedchakarn, Julie E. Niemela, Punchama Pacharn, Nualanong Visitsunthorn, Charin Thepthai, Pakit Vichyanond, Surapon Piboonpocanun, Thomas A. Fleisher
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Immunology and Microbiology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/14352

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...