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Page 1
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: prando c. 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.
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Kong XF, Vogt G, Chapgier A, Lamaze C, Bustamante J, Prando C, Fortin A, Puel A, Feinberg J, Zhang XX, Gonnord P, Pihkala-Saarinen UM, Arola M, Moilanen P, Abel L, Korppi M, Boisson-Dupuis S, Casanova JL. Kong XF, et al. Among authors: prando c. Hum Mol Genet. 2010 Feb 1;19(3):434-44. doi: 10.1093/hmg/ddp507. Epub 2009 Oct 31. Hum Mol Genet. 2010. PMID: 19880857 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. 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 novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Kong XF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, Feinberg J, Audry M, Prando C, Bryant V, Kreins A, Bogunovic D, Halwani R, Zhang XX, Abel L, Chaussabel D, Al-Muhsen S, Casanova JL, Boisson-Dupuis S. Kong XF, et al. Among authors: prando c. Blood. 2010 Dec 23;116(26):5895-906. doi: 10.1182/blood-2010-04-280586. Epub 2010 Sep 14. Blood. 2010. PMID: 20841510 Free PMC article.
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.
de Oliveira-Junior EB, Prando C, Lopez JA, Arango JC, Buzolin M, Rehder J, Pedroza LA, Frazão JB, Dantas VM, Roxo-Junior P, Grumach AS, Costa-Carvalho BT, Bustamante J, Condino-Neto A. de Oliveira-Junior EB, et al. Among authors: prando c. Scand J Immunol. 2012 Aug;76(2):158-66. doi: 10.1111/j.1365-3083.2012.02714.x. Scand J Immunol. 2012. PMID: 22540226 Free article.
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Among authors: prando c. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL. Prando C, et al. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
Deep dermatophytosis and inherited CARD9 deficiency.
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Stambouli OB, Guellil B, Jacobs F, Goffard JC, Schepers K, Del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Abel L, Lortholary O, Casanova JL, Picard C, Grimbacher B, Puel A. Lanternier F, et al. Among authors: prando c. N Engl J Med. 2013 Oct 31;369(18):1704-1714. doi: 10.1056/NEJMoa1208487. Epub 2013 Oct 16. N Engl J Med. 2013. PMID: 24131138 Free PMC article.
58 results