Lista de obras - Marina García-Prat - Dominio Público Uruguay

Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.

artículo científico publicado en 2018

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected individuals over 70 years old and account for 20% of COVID-19 deaths

artículo científico publicado en 2021

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

artículo científico publicado en 2018

Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study

scientific article published on 25 April 2019

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

artículo científico publicado en 2018

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations

artículo científico publicado en 2017

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

artículo científico publicado en 2018

Evaluation of cytokine profile and HLA association in benznidazole related cutaneous reactions in patients with Chagas disease.

artículo científico publicado en 2015

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

scientific article published on 01 October 2019

Extended immunophenotyping reference values in a healthy pediatric population

artículo científico publicado en 2018

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

scientific article published on 22 October 2019

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

artículo científico publicado en 2019

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

artículo científico publicado en 2018

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

scientific article published on 27 December 2019

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

artículo científico publicado en 2017

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

artículo científico publicado en 2020

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

artículo científico publicado en 2018

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype

scientific article published on 19 January 2020

Lista de obras de Marina García-Prat

Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected individuals over 70 years old and account for 20% of COVID-19 deaths

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

Evaluation of cytokine profile and HLA association in benznidazole related cutaneous reactions in patients with Chagas disease.

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Extended immunophenotyping reference values in a healthy pediatric population

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype