SILVIA MARÍA
SÁNCHEZ RAMÓN
Profesora asociada de Ciencias de la Salud
Necker-Enfants Malades Hospital
París, FranciaPublications in collaboration with researchers from Necker-Enfants Malades Hospital (15)
2024
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Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023)
Frontiers in Immunology, Vol. 15
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Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Human Genetics and Genomics Advances, Vol. 5, Núm. 3
2023
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine, Vol. 15, Núm. 1
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The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)
Frontiers in Immunology, Vol. 14
2021
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Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 2, pp. 520-531
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Journal of Allergy and Clinical Immunology, Vol. 148, Núm. 5, pp. 1332-1341.e5
2020
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
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Human BCL10 Deficiency due to Homozygosity for a Rare Allele
Journal of Clinical Immunology, Vol. 40, Núm. 2, pp. 388-398
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
2019
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Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency
Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 5, pp. 1931-1934.e1
2016
2015
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Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
Journal of Allergy and Clinical Immunology, Vol. 136, Núm. 5, pp. 1139-1149
2014
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Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
Journal of Clinical Investigation, Vol. 124, Núm. 12, pp. 5239-5248
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Primary immune deficiencies - principles of care
Frontiers in Immunology, Vol. 5, Núm. DEC