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Nekooie-Marnany, Nioosha; Deswarte, Caroline; Ostadi, Vajiheh; Bagherpour, Bahram; Taleby, Elaheh; Ganjalikhani-Hakemi, Mazdak; Le Voyer, Tom; Rahimi, Hamid; Rosain, Jeremie; Pourmoghadas, Zahra; Sheikhbahaei, Saba; Khoshnevisan, Razieh; Petersheim, Daniel; Kotlarz, Daniel; Klein, Christoph; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Bustamante, Jacinta; Sherkat, Roya (2018): Impaired IL-12-and IL-23-Mediated Immunity Due to IL-12R1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. In: Journal of Clinical Immunology, Vol. 38, No. 7: pp. 787-793
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PurposeInborn errors of IFN--mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased susceptibility to severe and recurrent infections caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guerin (BCG) vaccines and environmental, nontuberculous mycobacteria (NTM).Methods: In this study, we investigated four patients from four unrelated consanguineous families from Isfahan, Iran, with disseminated BCG disease. We evaluated the patients' whole blood cell response to IL-12 and IFN-, IL-12R1 expression on T cell blasts, and sequenced candidate genes.Results: We report four patients from Isfahan, Iran, ranging from 3months to 26years old, with impaired IL-12 signaling. All patients suffered from BCG disease. One of them presented mycobacterial osteomyelitis. By Sanger sequencing, we identified three different types of homozygous mutations in IL12RB1. Expression of IL-12R1 was completely abolished in the four patients with IL12RB1 mutations.Conclusion: sIL-12R1 deficiency was found in the four MSMD Iranian families tested. It is the first report of an Iranian case with S321* mutant IL-12R1 protein. Mycobacterial osteomyelitis is another type of location of BCG infection in an IL-12R1-deficient patient, notified for the first time in this study.