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Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.
Martínez-Feito A, Melero J, Mora-Díaz S, Rodríguez-Vigil C, Elduayen R, González-Granado LI, Pérez-Méndez D, Sánchez-Zapardiel E, Ruiz-García R, Menchén M, Díaz-Madroñero J, Paz-Artal E, Del Orbe-Barreto R, Riñón M, Allende LM. Martínez-Feito A, et al. Immunobiology. 2016 Jan;221(1):40-7. doi: 10.1016/j.imbio.2015.08.004. Epub 2015 Aug 17. Immunobiology. 2016. PMID: 26323380
Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome.
Mancebo E, Recio MJ, Martínez-Busto E, González-Granado LI, Rojo P, Fernández-Díaz E, Ruiz-Contreras J, Paz-Artal E, Allende LM. Mancebo E, et al. DNA Repair (Amst). 2011 Jan 2;10(1):3-4. doi: 10.1016/j.dnarep.2010.09.022. Epub 2010 Oct 27. DNA Repair (Amst). 2011. PMID: 21030322 No abstract available.
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.
Ruiz-García R, Lermo-Rojo S, Martínez-Lostao L, Mancebo E, Mora-Díaz S, Paz-Artal E, Ruiz-Contreras J, Anel A, González-Granado LI, Allende LM. Ruiz-García R, et al. J Allergy Clin Immunol. 2014 Jul;134(1):218-21. doi: 10.1016/j.jaci.2014.01.023. Epub 2014 Mar 14. J Allergy Clin Immunol. 2014. PMID: 24636087 No abstract available.
Visceral Leishmaniasis May Unmask X-linked Hyper-IgM Syndrome.
Gonzalez-Granado LI, Dominguez-Pinilla N, Gallego-Bustos F, Ruiz-Contreras J, Allende LM. Gonzalez-Granado LI, et al. J Clin Immunol. 2016 May;36(4):363-5. doi: 10.1007/s10875-016-0270-9. Epub 2016 Mar 17. J Clin Immunol. 2016. PMID: 26984850 No abstract available.
Multicenter study for the evaluation of the antibody response against salmonella typhi Vi vaccination (EMPATHY) for the diagnosis of Anti-polysaccharide antibody production deficiency in patients with primary immunodeficiency.
Sánchez-Ramón S, de Gracia J, García-Alonso AM, Rodríguez Molina JJ, Melero J, de Andrés A, García Ruiz de Morales JM, Ferreira A, Ocejo-Vinyals JG, Cid JJ, García Martínez JM, Lasheras T, Vargas ML, Gil-Herrera J, García Rodríguez MC, Castañer JL, González Granado LI, Allende LM, Soler-Palacin P, Herráiz L, López Hoyos M, Bellón JM, Silva G, Gurbindo DM, Carbone J, Rodríguez-Sáinz C, Matamoros N, Parker AR, Fernández-Cruz E; EMPATHY group. Sánchez-Ramón S, et al. Clin Immunol. 2016 Aug;169:80-84. doi: 10.1016/j.clim.2016.05.006. Epub 2016 May 25. Clin Immunol. 2016. PMID: 27236002 Free article. Clinical Trial. No abstract available.
150 results