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Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.
Arango-Franco CA, Moncada-Vélez M, Beltrán CP, Berrío I, Mogollón C, Restrepo A, Trujillo M, Osorio SD, Castro L, Gómez LV, Muñoz AM, Molina V, Del Río Cobaleda DY, Ruiz AC, Garcés C, Alzate JF, Cabarcas F, Orrego JC, Casanova JL, Bustamante J, Puel A, Arias AA, Franco JL. Arango-Franco CA, et al. Among authors: orrego jc. J Clin Immunol. 2018 Oct;38(7):794-803. doi: 10.1007/s10875-018-0549-0. Epub 2018 Sep 28. J Clin Immunol. 2018. PMID: 30264381
Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.
Moncada-Vélez M, Vélez-Ortega A, Orrego J, Santisteban I, Jagadeesh J, Olivares M, Olaya N, Hershfield M, Candotti F, Franco J. Moncada-Vélez M, et al. Scand J Immunol. 2011 Nov;74(5):471-81. doi: 10.1111/j.1365-3083.2011.02593.x. Scand J Immunol. 2011. PMID: 21671975 Free PMC article.
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.
Sánchez IP, Leal-Esteban LC, Álvarez-Álvarez JA, Pérez-Romero CA, Orrego JC, Serna ML, Coll Y, Caicedo Y, Pardo-Díaz E, Zimmer J, Bleesing JJ, Franco JL, Trujillo-Vargas CM. Sánchez IP, et al. Among authors: orrego jc. J Clin Immunol. 2012 Aug;32(4):670-80. doi: 10.1007/s10875-012-9680-5. Epub 2012 Mar 22. J Clin Immunol. 2012. PMID: 22437823
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. Depner M, et al. J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25. J Clin Immunol. 2016. PMID: 26604104 Free PMC article.
[Colombian Guidelines of clinical practice for the use of immunoglobulins in the treatment of replacement and immunomodulation].
Olivares MM, Olmos CE, Álvarez MI, Fajardo AM, Zea-Vera AF, Ortega MC, Medina D, Pérez PM, Beltrán DG, Duque B, Álvarez CA, Lenis G, Solano JM, Gómez D, Franco JL, Díaz MC, Orrego JC, Velásquez MM, Chaparro M, Pinto JL, Izquierdo Á, Ramírez SF. Olivares MM, et al. Among authors: orrego jc. Rev Alerg Mex. 2017;64 Suppl 2:s5-s65. doi: 10.29262/ram.v64i0.300. Rev Alerg Mex. 2017. PMID: 28863425 Spanish.
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