Abdulrahman N Alodayani, Abdulnasir M Al-Otaibi, Caroline Deswarte, Husn Habib Frayha, Matthieu Bouaziz, Maryam AlHelale, Tom Le Voyer, Alejandro Nieto-Patlan, Vimel Rattina, Mofareh AlZahrani, Rabih Halwani, Fahad Al Sohime, Hamoud Al-Mousa, Saleh Al-Muhsen, Sami H Alhajjar, Nabil S Dhayhi, Laurent Abel, Jean-Laurent Casanova, Ibrahim Bin-Hussain, May S AlBarrak, Suliman A Al-Jumaah, Jacinta Bustamante
PURPOSE: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing congenitally affected individuals to diseases caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains and environmental mycobacteria. IL-12p40 deficiency is a genetic etiology of MSMD resulting in impaired IL-12- and IL-23-dependent IFN-γ immunity. Most of the reported patients with IL-12p40 deficiency originate from Saudi Arabia (30 of 52) and carry the recurrent IL12B mutation c...
March 27, 2018: Journal of Clinical Immunology