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Page 1
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI. Recio MJ, et al. Among authors: allende lm. Front Immunol. 2019 Jan 7;9:2959. doi: 10.3389/fimmu.2018.02959. eCollection 2018. Front Immunol. 2019. PMID: 30666249 Free PMC article.
A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.
Allende LM, Hernández M, Corell A, García-Pérez MA, Varela P, Moreno A, Caragol I, García-Martín F, Guillén-Perales J, Olivé T, Español T, Arnaiz-Villena A. Allende LM, et al. Immunology. 2000 Mar;99(3):440-50. doi: 10.1046/j.1365-2567.2000.00960.x. Immunology. 2000. PMID: 10712675 Free PMC article.
Differential biological role of CD3 chains revealed by human immunodeficiencies.
Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, Pérez-Flores V, Mencía A, Modamio-Høybjør S, Seoane E, Regueiro JR. Recio MJ, et al. Among authors: allende lm. J Immunol. 2007 Feb 15;178(4):2556-64. doi: 10.4049/jimmunol.178.4.2556. J Immunol. 2007. PMID: 17277165
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. Among authors: allende lm. 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.
Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.
Muñoz-Ruiz M, Pérez-Flores V, Garcillán B, Guardo AC, Mazariegos MS, Takada H, Allende LM, Kilic SS, Sanal O, Roifman CM, López-Granados E, Recio MJ, Martínez-Naves E, Fernández-Malavé E, Regueiro JR. Muñoz-Ruiz M, et al. Among authors: allende lm. BMC Immunol. 2013 Jan 21;14:3. doi: 10.1186/1471-2172-14-3. BMC Immunol. 2013. PMID: 23336327 Free PMC article.
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. Among authors: allende lm. 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.
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. Among authors: allende lm. Immunobiology. 2016 Jan;221(1):40-7. doi: 10.1016/j.imbio.2015.08.004. Epub 2015 Aug 17. Immunobiology. 2016. PMID: 26323380
133 results