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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.
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I, Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F, Berrón-Ruiz L, Staines-Boone T, Calderón WO, del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT, Espinosa-Rosales F, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. J Clin Immunol. 2014 Feb;34(2):146-56. doi: 10.1007/s10875-013-9980-4. Epub 2014 Jan 9. J Clin Immunol. 2014. PMID: 24402618
Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications.
Mazzucchelli JT, Bonfim C, Castro GG, Condino-Neto AA, Costa NM, Cunha L, Dantas EO, Dantas VM, de Moraes-Pinto MI, Fernandes JF, Goes HC, Goudouris E, Grumach AS, Guirau LM, Kuntze G, Mallozzi MC, Monteiro FP, Moraes LS, Nudelman V, Pinto JA, Rizzo MC, Porto-Neto AC, Roxo-Junior P, Ruiz M, Rullo VE, Seber A, Takano OA, Tavares FS, Toledo E, Vilela MM, Costa-Carvalho BT. Mazzucchelli JT, et al. J Investig Allergol Clin Immunol. 2014;24(3):184-91. J Investig Allergol Clin Immunol. 2014. PMID: 25011356 Free article.
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
de Oliveira-Junior EB, Zurro NB, Prando C, Cabral-Marques O, Pereira PV, Schimke LF, Klaver S, Buzolin M, Blancas-Galicia L, Santos-Argumedo L, Pietropaolo-Cienfuegos DR, Espinosa-Rosales F, King A, Sorensen R, Porras O, Roxo-Junior P, Forte WC, Orellana JC, Lozano A, Galicchio M, Regairaz L, Grumach AS, Costa-Carvalho BT, Bustamante J, Bezrodnik L, Oleastro M, Danielian S, Condino-Neto A. de Oliveira-Junior EB, et al. Pediatr Blood Cancer. 2015 Dec;62(12):2101-7. doi: 10.1002/pbc.25674. Epub 2015 Jul 15. Pediatr Blood Cancer. 2015. PMID: 26185101 Clinical Trial.
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ.
Cabral-Marques O, Ramos RN, Schimke LF, Khan TA, Amaral EP, Barbosa Bomfim CC, Junior OR, França TT, Arslanian C, Carola Correia Lima JD, Weber CW, Ferreira JF, Tavares FS, Sun J, D'Imperio Lima MR, Seelaender M, Garcia Calich VL, Marzagão Barbuto JA, Costa-Carvalho BT, Riemekasten G, Seminario G, Bezrodnik L, Notarangelo L, Torgerson TR, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. J Allergy Clin Immunol. 2017 Mar;139(3):900-912.e7. doi: 10.1016/j.jaci.2016.07.018. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554817
CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.
Cabral-Marques O, França TT, Al-Sbiei A, Schimke LF, Khan TA, Feriotti C, da Costa TA, Junior OR, Weber CW, Ferreira JF, Tavares FS, Valente C, Di Gesu RSW, Iqbal A, Riemekasten G, Amarante-Mendes GP, Marzagão Barbuto JA, Costa-Carvalho BT, Pereira PVS, Fernandez-Cabezudo MJ, Calich VLG, Notarangelo LD, Torgerson TR, Al-Ramadi BK, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. J Allergy Clin Immunol. 2018 Nov;142(5):1571-1588.e9. doi: 10.1016/j.jaci.2018.02.026. Epub 2018 Mar 5. J Allergy Clin Immunol. 2018. PMID: 29518426 Free PMC article.
224 results