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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
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.