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Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A, Rivière JG, Roxo-Junior P, Ramakers J, Bloomfield M, Guisado Hernandez P, Blanco Lobo P, Abu Jamra SR, Esteve-Sole A, Kanderova V, García-García A, Lopez-Corbeto M, Martinez Pomar N, Martín-Nalda A, Alsina L, Neth O, Olbrich P. Deyà-Martínez A, et al. Among authors: martinez pomar n. J Clin Immunol. 2022 Jul;42(5):1071-1082. doi: 10.1007/s10875-022-01257-x. Epub 2022 Apr 29. J Clin Immunol. 2022. PMID: 35486339 Free PMC article. Review.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. Among authors: martinez pomar n. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
Functional impact of A91V mutation of the PRF1 perforin gene.
Martínez-Pomar N, Lanio N, Romo N, Lopez-Botet M, Matamoros N. Martínez-Pomar N, et al. Hum Immunol. 2013 Jan;74(1):14-7. doi: 10.1016/j.humimm.2012.10.011. Epub 2012 Oct 13. Hum Immunol. 2013. PMID: 23073290
Hyperinflammatory State and Low T1 Adaptive Immune Response in Severe and Critical Acute COVID-19 Patients.
Garcia-Gasalla M, Berman-Riu M, Pons J, Rodríguez A, Iglesias A, Martínez-Pomar N, Llompart-Alabern I, Riera M, Ferré Beltrán A, Figueras-Castilla A, Murillas J, Ferrer JM. Garcia-Gasalla M, et al. Among authors: martinez pomar n. Front Med (Lausanne). 2022 Mar 29;9:828678. doi: 10.3389/fmed.2022.828678. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35425776 Free PMC article.
TACI mutation in Good's Syndrome: in search of a genetic basis.
Sáenz-Cuesta M, Martínez-Pomar N, de Gracia J, Echaniz P, Villegas E, Prada A, Otaegui D, Matamoros N, Cuadrado E. Sáenz-Cuesta M, et al. Among authors: martinez pomar n. Clin Immunol. 2012 Oct;145(1):27-30. doi: 10.1016/j.clim.2012.07.014. Epub 2012 Aug 4. Clin Immunol. 2012. PMID: 22922270 No abstract available.
17 results