Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia

@article{Alodayani2018MendelianST,
  title={Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia},
  author={Abdulrahman N. Alodayani and Abdulnasir M. Al-Otaibi and Caroline Deswarte and Husn Habib Frayha and Matthieu Bouaziz and Maryam Alhelale and Tom Le Voyer and Alejandro Nieto-Patl{\'a}n and Vimel Rattina and Mofareh Alzahrani and Rabih Halwani and Fahad Al Sohime and Hamoud Al-Mousa and Saleh Zaid Al-Muhsen and Sami H. Alhajjar and Nabil S. Dhayhi and Laurent Abel and J. Hugo P{\'e}rez Casanova and Ibrahim Z. Bin-Hussain and May S. AlBarrak and Suliman A. Al-Jumaah and Jacinta Bustamante},
  journal={Journal of Clinical Immunology},
  year={2018},
  volume={38},
  pages={278-282}
}
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… CONTINUE READING