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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. Boisson-Dupuis S, et al. Sci Immunol. 2018 Dec 21;3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714. Sci Immunol. 2018. PMID: 30578352 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. 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.
Primary immunodeficiency diseases in Latin America: proceedings of the Second Latin American Society for Immunodeficiencies (LASID) Advisory Board.
Leiva LE, Bezrodnik L, Oleastro M, Condino-Neto A, Costa-Carvalho BT, Grumach AS, Espinosa-Rosales FJ, Franco JL, King A, Inostroza J, Quezada A, Porras O, Sorensen RU. Leiva LE, et al. Allergol Immunopathol (Madr). 2011 Mar-Apr;39(2):106-10. doi: 10.1016/j.aller.2010.10.007. Epub 2011 Feb 22. Allergol Immunopathol (Madr). 2011. PMID: 21345576
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.
Cabral-Marques O, Arslanian C, Ramos RN, Morato M, Schimke L, Soeiro Pereira PV, Jancar S, Ferreira JF, Weber CW, Kuntze G, Rosario-Filho NA, Costa Carvalho BT, Bergami-Santos PC, Hackett MJ, Ochs HD, Torgerson TR, Barbuto JA, Condino-Neto A. Cabral-Marques O, et al. J Allergy Clin Immunol. 2012 Mar;129(3):778-86. doi: 10.1016/j.jaci.2011.10.026. Epub 2011 Dec 10. J Allergy Clin Immunol. 2012. PMID: 22154528
Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.
Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, Errante PR, Weber CW, Ferreira JF, Kuntze G, Rosário-Filho NA, Ochs HD, Torgerson TR, Carvalho BT, Condino-Neto A. Cabral-Marques O, et al. J Clin Immunol. 2012 Apr;32(2):212-20. doi: 10.1007/s10875-011-9623-6. Epub 2011 Dec 23. J Clin Immunol. 2012. PMID: 22193914
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. 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.
214 results