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

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 defic...

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Published in:	Journal of clinical immunology Vol. 38; no. 3; pp. 278 - 282
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	New York Springer US 01-04-2018 Springer Nature B.V
Subjects:	Bacillus Calmette-Guerin vaccine BCG Biomedical and Life Sciences Biomedicine Disease Etiology Founder effect Genetic analysis IL12B protein Immunodeficiency Immunology Infectious Diseases Interleukin 1 Interleukin 12 Interleukin 23 Internal Medicine Medical Microbiology Mutation Original Article Primary immunodeficiencies Vaccines γ-Interferon Saudi Arabia Mendelian susceptibility to mycobacterial disease Bacillus Calmette-Guérin (BCG) disseminated BCG infection, IL-12, interferon
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Summary:	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.315insA (27 of 30). Methods Whole-exome sequencing was performed on three patients from two unrelated kindreds from Saudi Arabia with disseminated disease caused by a BCG vaccine substrain. Results Genetic analysis revealed a homozygous mutation, p.W60X, in exon 3 of the IL12B gene, resulting in complete IL12p40 deficiency. This mutation is recurrent due to a new founder effect. Conclusions This report provides evidence for a second founder effect for recurrent mutations of IL12B in Saudi Arabia.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 Equal contributions
ISSN:	0271-9142 1573-2592
DOI:	10.1007/s10875-018-0490-2