| Title |
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia
|
|---|---|
| Published in |
Journal of Clinical Immunology, March 2018
|
| DOI | 10.1007/s10875-018-0490-2 |
| Pubmed ID | |
| Authors |
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 |
| Abstract |
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). Whole-exome sequencing was performed on three patients from two unrelated kindreds from Saudi Arabia with disseminated disease caused by a BCG vaccine substrain. 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. This report provides evidence for a second founder effect for recurrent mutations of IL12B in Saudi Arabia. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 25% |
| Student > Postgraduate | 2 | 10% |
| Student > Doctoral Student | 1 | 5% |
| Student > Bachelor | 1 | 5% |
| Lecturer | 1 | 5% |
| Other | 4 | 20% |
| Unknown | 6 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 35% |
| Medicine and Dentistry | 3 | 15% |
| Agricultural and Biological Sciences | 1 | 5% |
| Immunology and Microbiology | 1 | 5% |
| Computer Science | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 7 | 35% |
Attention Score in Context
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#20,472,403
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Outputs of similar age from Journal of Clinical Immunology
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