Lista de obras -

A three-dimensional model of human lung development and disease from pluripotent stem cells.

artículo científico publicado en 2017

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

scientific article published on 01 February 2020

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

artículo científico publicado en 2012

B cells characterization in ADA2 Deficiency patients.

artículo científico publicado en 2015

Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patients.

artículo científico publicado en 2008

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

artículo científico publicado en 2015

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

artículo científico publicado en 2017

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report

artículo científico publicado en 2018

Deficiency in coatomer complex I causes aberrant activation of STING signalling

artículo científico publicado en 2022

Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies

artículo científico publicado en 2015

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

artículo científico publicado en 2017

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

artículo científico publicado en 2017

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

scientific article published on 29 May 2019

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

artículo científico publicado en 2015

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

artículo científico publicado en 2015

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

artículo científico publicado en 2014

Novel Genome-Editing Tools to Model and Correct Primary Immunodeficiencies.

artículo científico

Powering the immune system: mitochondria in immune function and deficiency

artículo científico publicado en 2014

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center

artículo científico publicado en 2014

Recent Insight into SARS-CoV2 Immunopathology and Rationale for Potential Treatment and Preventive Strategies in COVID-19

artículo científico publicado en 2020

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy

scientific article published on 16 November 2018

Type I interferon pathway activation in COPA syndrome

artículo científico publicado en 2017

Type I interferon-mediated autoinflammation due to DNase II deficiency

artículo científico publicado en 2017

Type I interferonopathies in pediatric rheumatology

artículo científico publicado en 2016

Lista de obras de

A three-dimensional model of human lung development and disease from pluripotent stem cells.

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

B cells characterization in ADA2 Deficiency patients.

Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patients.

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report

Deficiency in coatomer complex I causes aberrant activation of STING signalling

Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

Novel Genome-Editing Tools to Model and Correct Primary Immunodeficiencies.

Powering the immune system: mitochondria in immune function and deficiency

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center

Recent Insight into SARS-CoV2 Immunopathology and Rationale for Potential Treatment and Preventive Strategies in COVID-19

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy

Type I interferon pathway activation in COPA syndrome

Type I interferon-mediated autoinflammation due to DNase II deficiency

Type I interferonopathies in pediatric rheumatology