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Page 1
Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD.
Muriel-Vizcaino R, Yamazaki-Nakashimada M, López-Herrera G, Santos-Argumedo L, Ramírez-Alejo N. Muriel-Vizcaino R, et al. Among authors: ramirez alejo n. J Clin Immunol. 2016 Jul;36(5):420-2. doi: 10.1007/s10875-016-0292-3. Epub 2016 May 4. J Clin Immunol. 2016. PMID: 27146670 No abstract available.
Molecular analysis for patients with IL-12 receptor β1 deficiency.
Ramirez-Alejo N, Blancas-Galicia L, Yamazaki-Nakashimada M, García-Rodríguez SE, Rivas-Larrauri F, Paolo-Cienfuegos DP, Alcantara-Salinas A, Espinosa-Rosales F, Santos-Argumedo L. Ramirez-Alejo N, et al. Clin Genet. 2014 Aug;86(2):161-6. doi: 10.1111/cge.12253. Epub 2013 Sep 11. Clin Genet. 2014. PMID: 23952477
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
Ramírez-Alejo N, Alcántara-Montiel JC, Yamazaki-Nakashimada M, Duran-McKinster C, Valenzuela-León P, Rivas-Larrauri F, Cedillo-Barrón L, Hernández-Rivas R, Santos-Argumedo L. Ramírez-Alejo N, et al. Clin Immunol. 2015 Oct;160(2):163-71. doi: 10.1016/j.clim.2015.06.007. Epub 2015 Jun 24. Clin Immunol. 2015. PMID: 26117626
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).
Yamazaki-Nakashimada M, Maravillas-Montero JL, Berrón-Ruiz L, López-Ortega O, Ramírez-Alejo N, Acevedo-Ochoa E, Rivas-Larrauri F, Llamas-Guillén B, Blancas-Galicia L, Scheffler-Mendoza S, Olaya-Vargas A, Santos-Argumedo L. Yamazaki-Nakashimada M, et al. Among authors: ramirez alejo n. Immunol Res. 2015 Mar;61(3):260-8. doi: 10.1007/s12026-014-8619-8. Immunol Res. 2015. PMID: 25527966
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL. Martínez-Barricarte R, et al. Among authors: ramirez alejo n. Sci Immunol. 2018 Dec 21;3(30):eaau6759. doi: 10.1126/sciimmunol.aau6759. Sci Immunol. 2018. PMID: 30578351 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. 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.
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J. Rosain J, et al. Among authors: ramirez alejo n. Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25. Immunol Cell Biol. 2019. PMID: 30264912 Free PMC article. Review.
14 results