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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. 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.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava C, Álvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, García-Prat M, de la Cruz X, Martín-Nalda A, Soler-Palacín P, Hernández-González M, Colobran R. Franco-Jarava C, et al. J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23. J Clin Immunol. 2017. PMID: 28942469
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G, Esteve-Solé A, Piquer M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martin AM, Deyà-Martínez Á, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe J, Alsina L, Juan M, Casals F. de Valles-Ibáñez G, et al. Front Immunol. 2018 May 14;9:636. doi: 10.3389/fimmu.2018.00636. eCollection 2018. Front Immunol. 2018. PMID: 29867916 Free PMC article.
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