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Page 1
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: franco jl. 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.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Among authors: franco jl. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.
Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C. Ouederni M, et al. Among authors: franco jl. Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1. Clin Infect Dis. 2014. PMID: 24186907 Free PMC article.
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. Bousfiha A, et al. Among authors: franco jl. J Clin Immunol. 2015 Nov;35(8):727-38. doi: 10.1007/s10875-015-0198-5. Epub 2015 Oct 7. J Clin Immunol. 2015. PMID: 26445875 Free PMC article. Review.
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Picard C, et al. Among authors: franco jl. J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19. J Clin Immunol. 2015. PMID: 26482257 Free PMC article. Review.
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium; Alcais A, Boisson B, Casanova JL, Abel L. Belkadi A, et al. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247391 Free PMC article. Clinical Trial.
213 results