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A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.
Gil J, Busto EM, Garcillán B, Chean C, García-Rodríguez MC, Díaz-Alderete A, Navarro J, Reiné J, Mencía A, Gurbindo D, Beléndez C, Gordillo I, Duchniewicz M, Höhne K, García-Sánchez F, Fernández-Cruz E, López-Granados E, Schamel WW, Moreno-Pelayo MA, Recio MJ, Regueiro JR. Gil J, et al. Among authors: recio mj. J Clin Invest. 2011 Oct;121(10):3872-6. doi: 10.1172/JCI44254. Epub 2011 Sep 19. J Clin Invest. 2011. PMID: 21926461 Free PMC article.
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: recio mj. BMC Immunol. 2013 Jan 21;14:3. doi: 10.1186/1471-2172-14-3. BMC Immunol. 2013. PMID: 23336327 Free PMC article.
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, Garcillán B. Marin AV, et al. Among authors: recio mj. J Allergy Clin Immunol. 2017 Jan;139(1):347-349.e8. doi: 10.1016/j.jaci.2016.06.020. Epub 2016 Aug 21. J Allergy Clin Immunol. 2017. PMID: 27555457 No abstract available.
Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient.
Valés-Gómez M, Esteso G, Aydogmus C, Blázquez-Moreno A, Marín AV, Briones AC, Garcillán B, García-Cuesta EM, López Cobo S, Haskologlu S, Moraru M, Cipe F, Dobbs K, Dogu F, Parolini S, Notarangelo LD, Vilches C, Recio MJ, Regueiro JR, Ikinciogullari A, Reyburn HT. Valés-Gómez M, et al. Among authors: recio mj. J Allergy Clin Immunol. 2016 Mar;137(3):942-5.e4. doi: 10.1016/j.jaci.2015.07.051. Epub 2015 Nov 2. J Allergy Clin Immunol. 2016. PMID: 26542031 No abstract available.
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. Front Immunol. 2019 Jan 7;9:2959. doi: 10.3389/fimmu.2018.02959. eCollection 2018. Front Immunol. 2019. PMID: 30666249 Free PMC article.
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R. Van Den Rym A, et al. Among authors: recio mj. J Clin Immunol. 2020 Feb;40(2):388-398. doi: 10.1007/s10875-020-00760-3. Epub 2020 Feb 1. J Clin Immunol. 2020. PMID: 32008135
Clinical and Immunological Features of Human BCL10 Deficiency.
Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, Pérez de Diego R. Garcia-Solis B, et al. Among authors: recio mj. Front Immunol. 2021 Nov 12;12:786572. doi: 10.3389/fimmu.2021.786572. eCollection 2021. Front Immunol. 2021. PMID: 34868072 Free PMC article.
31 results