Orathai JirapongsananurukVoravich LuangwedchakarnJulie E. NiemelaPunchama PacharnNualanong VisitsunthornCharin ThepthaiPakit VichyanondSurapon PiboonpocanunThomas A. FleisherMahidol UniversityNIH Clinical Center2018-06-112018-06-112012-03-01Asian Pacific Journal of Allergy and Immunology. Vol.30, No.1 (2012), 79-82222886940125877X2-s2.0-84858764657https://repository.li.mahidol.ac.th/handle/20.500.14594/14352The 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.Mahidol UniversityImmunology and MicrobiologyMedicineArticleSCOPUS