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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Boluda-Navarro M, et al. Among authors: carreras c. Front Immunol. 2021 Mar 31;12:625591. doi: 10.3389/fimmu.2021.625591. eCollection 2021. Front Immunol. 2021. PMID: 33868243 Free PMC article.
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F, Franco-Jarava C, Martínez-Gallo M, Garcia-Prat M, Martín-Nalda A, Rivière J, Aguiló-Cucurull A, Mongay L, Vidal F, Solanich X, Irastorza I, Santos-Pérez JL, Tercedor Sánchez J, Cuscó I, Serra C, Baz-Redón N, Fernández-Cancio M, Carreras C, Vagace JM, Garcia-Patos V, Pujol-Borrell R, Soler-Palacín P, Colobran R. Rudilla F, et al. Among authors: carreras c. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.
Lobo PB, Guisado-Hernández P, Villaoslada I, de Felipe B, Carreras C, Rodriguez H, Carazo-Gallego B, Méndez-Echevarria A, Lucena JM, Aljaro PO, Castro MJ, Noguera-Uclés JF, Milner JD, McCann K, Zimmerman O, Freeman AF, Lionakis MS, Holland SM, Neth O, Olbrich P. Lobo PB, et al. Among authors: carreras c. J Clin Immunol. 2022 Aug;42(6):1193-1204. doi: 10.1007/s10875-022-01273-x. Epub 2022 May 4. J Clin Immunol. 2022. PMID: 35507130 Free article.
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen.
Puga I, Cols M, Barra CM, He B, Cassis L, Gentile M, Comerma L, Chorny A, Shan M, Xu W, Magri G, Knowles DM, Tam W, Chiu A, Bussel JB, Serrano S, Lorente JA, Bellosillo B, Lloreta J, Juanpere N, Alameda F, Baró T, de Heredia CD, Torán N, Català A, Torrebadell M, Fortuny C, Cusí V, Carreras C, Diaz GA, Blander JM, Farber CM, Silvestri G, Cunningham-Rundles C, Calvillo M, Dufour C, Notarangelo LD, Lougaris V, Plebani A, Casanova JL, Ganal SC, Diefenbach A, Aróstegui JI, Juan M, Yagüe J, Mahlaoui N, Donadieu J, Chen K, Cerutti A. Puga I, et al. Among authors: carreras c. Nat Immunol. 2011 Dec 25;13(2):170-80. doi: 10.1038/ni.2194. Nat Immunol. 2011. PMID: 22197976 Free PMC article.
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Hayward G, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Amin T, Berg S, Soler-Palacin P, Burns SO, Campbell M; RITA-ERN Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2023 Jan;43(1):206-216. doi: 10.1007/s10875-022-01345-y. Epub 2022 Oct 12. J Clin Immunol. 2023. PMID: 36222999 Free PMC article.
Hemophagocytic Lymphohistiocytosis and Severe Hypoxemia in a Preterm Infant.
Huerta S, Pérez-Lara L, Pinilla-González A, Morell C, Llorens-Salvador R, Villarroya-Villalba Á, Carreras C, Cernada M. Huerta S, et al. Among authors: carreras c. Pediatr Infect Dis J. 2023 Mar 1;42(3):271-273. doi: 10.1097/INF.0000000000003705. Epub 2022 Feb 15. Pediatr Infect Dis J. 2023. PMID: 36102741 No abstract available.
100 results