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

doi:10.1007/s10875-018-0490-2

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Article

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

Journal of clinical immunology - 1 Apr 2018

Alodayani Abdulrahman N, Al-Otaibi Abdulnasir M, Deswarte Caroline, Frayha Husn Habib, Bouaziz Matthieu, AlHelale Maryam, Le Voyer Tom, Nieto-Patlan Alejandro, Rattina Vimel, AlZahrani Mofareh, Halwani Rabih, Al Sohime Fahad, Al-Mousa Hamoud, Al-Muhsen Saleh, Alhajjar Sami H, Dhayhi Nabil S, Abel Laurent, Casanova Jean-Laurent, Bin-Hussain Ibrahim, AlBarrak May S, Al-Jumaah Suliman A, Bustamante Jacinta

Abstract excerpt

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...

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PMID: 29589181
DOI: 10.1007/s10875-018-0490-2
PMCID: PMC5934323

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