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IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, Samarina A, Grant AV, Janniere L, El Hafidi N, Hassani A, Nolan D, Najib J, Camcioglu Y, Hatipoglu N, Aydogmus C, Tanir G, Aytekin C, Keser M, Somer A, Aksu G, Kutukculer N, Mansouri D, Mahdaviani A, Mamishi S, Alcais A, Abel L, Casanova JL. Boisson-Dupuis S, et al. Among authors: grant av. PLoS One. 2011 Apr 13;6(4):e18524. doi: 10.1371/journal.pone.0018524. PLoS One. 2011. PMID: 21533230 Free PMC article.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL. Prando C, et al. Among authors: grant av. Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291. Am J Med Genet A. 2010. PMID: 20186794 Free PMC article. Review.
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL. Bolze A, et al. Among authors: grant av. PLoS One. 2012;7(1):e29708. doi: 10.1371/journal.pone.0029708. Epub 2012 Jan 4. PLoS One. 2012. PMID: 22238637 Free PMC article.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J. Sabri A, et al. Among authors: grant av. J Infect Dis. 2014 Aug 15;210(4):611-8. doi: 10.1093/infdis/jiu140. Epub 2014 Mar 8. J Infect Dis. 2014. PMID: 24610875 Free PMC article.
Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region.
Grant AV, El Baghdadi J, Sabri A, El Azbaoui S, Alaoui-Tahiri K, Abderrahmani Rhorfi I, Gharbaoui Y, Abid A, Benkirane M, Raharimanga V, Richard V, Orlova M, Boland A, Migaud M, Okada S, Nolan DK, Bustamante J, Barreiro LB, Schurr E, Boisson-Dupuis S, Rasolofo V, Casanova JL, Abel L. Grant AV, et al. Am J Hum Genet. 2013 Mar 7;92(3):407-14. doi: 10.1016/j.ajhg.2013.01.013. Epub 2013 Feb 14. Am J Hum Genet. 2013. PMID: 23415668 Free PMC article.
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Kreins AY, et al. Among authors: grant av. J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24. J Exp Med. 2015. PMID: 26304966 Free PMC article.
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL. Bustamante J, et al. Among authors: grant av. Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30. Nat Immunol. 2011. PMID: 21278736 Free PMC article.
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL. Bogunovic D, et al. Among authors: grant av. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. Science. 2012. PMID: 22859821 Free PMC article.
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
Grant AV, Boisson-Dupuis S, Herquelot E, de Beaucoudrey L, Filipe-Santos O, Nolan DK, Feinberg J, Boland A, Al-Muhsen S, Sanal O, Camcioglu Y, Palanduz A, Kilic SS, Bustamante J, Casanova JL, Abel L. Grant AV, et al. J Med Genet. 2011 Aug;48(8):567-71. doi: 10.1136/jmg.2011.089128. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572128 Free PMC article.
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.
Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, Casanova JL. Kilic SS, et al. Among authors: grant av. J Pediatr. 2012 Jun;160(6):1055-7. doi: 10.1016/j.jpeds.2012.01.056. Epub 2012 Mar 7. J Pediatr. 2012. PMID: 22402565 Free PMC article.
46 results