Salud Pública y Materno-Infantil
Department
ESTELA NATIVIDAD
PAZ ARTAL
Profesora titular de universidad
Publications by the researcher in collaboration with ESTELA NATIVIDAD PAZ ARTAL (20)
2024
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Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity
Journal of Clinical Immunology, Vol. 44, Núm. 3
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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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Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children
Journal of Clinical Immunology, Vol. 43, Núm. 6, pp. 1278-1288
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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
2021
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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
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Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome
Frontiers in Immunology, Vol. 12
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Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management
Frontiers in Immunology, Vol. 12
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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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science, Vol. 370, Núm. 6515
2019
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Acquired and innate immunity impairment and severe disseminated Mycobacterium genavense infection in a patient with a NF-κB1 deficiency
Frontiers in Immunology, Vol. 10, Núm. JAN
2017
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Acquired senescent T-cell phenotype correlates with clinical severity in GATA binding protein 2-deficient patients
Frontiers in Immunology, Vol. 8, Núm. JUL
2016
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Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation
Immunobiology, Vol. 221, Núm. 1, pp. 40-47
2015
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Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation
Pediatric Research, Vol. 78, Núm. 6, pp. 603-608
2014
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A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity
Journal of Allergy and Clinical Immunology, Vol. 134, Núm. 1
2011
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Phenotypic and functional evaluation of CD3 +CD4 -CD8 -T cells in human cd8 immunodeficiency
Haematologica, Vol. 96, Núm. 8, pp. 1195-1203
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Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome
DNA Repair
2008
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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies
Molecular Immunology, Vol. 45, Núm. 2, pp. 479-484
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Longitudinal analysis of immune function in the first 3 years of life in thymectomized neonates during cardiac surgery
Clinical and Experimental Immunology, Vol. 154, Núm. 3, pp. 375-383
2006
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A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome
Blood, Vol. 108, Núm. 4, pp. 1306-1312