Lista de obras -

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

artículo científico publicado en 2014

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

artículo científico publicado en 2009

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

artículo científico publicado en 2012

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

artículo científico publicado en 2012

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

artículo científico publicado en 2005

Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta

scientific article published on September 2008

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

artículo científico publicado en 2011

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.

artículo científico publicado en 2013

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

artículo científico publicado en 2006

Characterization of Ig gene somatic hypermutation in the absence of activation-induced cytidine deaminase

artículo científico publicado en 2008

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

artículo científico publicado en 2016

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

artículo científico publicado en 2004

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

artículo científico publicado en 2016

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

artículo científico publicado en 2021

Common variable immunodeficiency: computed tomography evaluation of bronchopulmonary changes including nodular lesions in 40 patients. Correlation with clinical and immunological data

artículo científico publicado en 2010

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

artículo científico publicado en 2016

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

artículo científico publicado en 2018

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

artículo científico publicado en 2017

Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies

artículo científico publicado en 2002

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

artículo científico publicado en 2012

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

artículo científico publicado en 2010

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

artículo científico publicado en 2012

Diagnostic approach of hypogammaglobulinemia in infancy

artículo científico publicado en 2020

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

artículo científico publicado en 2014

Differentiating PFAPA syndrome from monogenic periodic fevers

artículo científico publicado en 2009

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

scholarly article by Lorenzo Loffredo published in April 2013

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scholarly article by Irene Puga et al published February 2014 in Nature Immunology

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency

artículo científico publicado en 2003

Functional defects of dendritic cells in patients with CD40 deficiency

artículo científico publicado en 2003

Genetic causes of bronchiectasis: primary immune deficiencies and the lung

artículo científico publicado en 2007

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study

artículo científico publicado en 2009

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

artículo científico publicado en 2004

Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen

artículo científico publicado en 2003

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

artículo científico publicado en 2005

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

artículo científico publicado en 2003

ICOS deficiency in patients with common variable immunodeficiency.

artículo científico publicado en 2004

Ig beta deficiency in humans

scientific article published on December 2008

Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils

artículo científico publicado en 2009

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

artículo científico publicado en 2016

Inherited Human gp91 phox Deficiency Is Associated With Impaired Isoprostane Formation and Platelet Dysfunction

article

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

artículo científico publicado en 2014

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

artículo científico publicado en 2014

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

artículo científico publicado en 2006

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

NOX 5 is expressed in platelets from patients with chronic granulomatous disease

artículo científico publicado en 2016

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

artículo científico publicado en 2017

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

artículo científico publicado en 2006

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

artículo científico publicado en 2011

Nosocomial Rotavirus Gastroenteritis in pediatric patients: a multi-center prospective cohort study.

artículo científico publicado en 2010

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

artículo científico publicado en 2015

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

article by Francesco Violi et al published February 2013 in Arteriosclerosis, Thrombosis, and Vascular Biology

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

artículo científico publicado en 2008

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

artículo científico publicado en 2013

Screening of functional and positional candidate genes in families with common variable immunodeficiency

artículo científico publicado en 2008

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

artículo científico publicado en 2014

Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors

artículo científico publicado en 2012

The change in Ig regulation from children to adults disconnects the correlation with the 3'RR hs1.2 polymorphism

artículo científico publicado en 2014

The quality of life of children and adolescents with X-linked agammaglobulinemia

artículo científico publicado en 2008

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

artículo científico publicado en 2010

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children.

artículo científico publicado en 2012

Type I interferon-dependent gene MxA in perinatal HIV-infected patients under antiretroviral therapy as marker for therapy failure and blood plasmacytoid dendritic cells depletion

artículo científico publicado en 2008

Update on treatment of Marshall's syndrome (PFAPA syndrome): report of five cases with review of the literature

artículo científico publicado en 2003

Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases

artículo científico publicado en 2011

Viral double-stranded RNA triggers Ig class switching by activating upper respiratory mucosa B cells through an innate TLR3 pathway involving BAFF.

artículo científico publicado en 2008

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

artículo científico publicado en 2010

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

artículo científico publicado en 2006

Lista de obras de

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Characterization of Ig gene somatic hypermutation in the absence of activation-induced cytidine deaminase

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

Common variable immunodeficiency: computed tomography evaluation of bronchopulmonary changes including nodular lesions in 40 patients. Correlation with clinical and immunological data

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Diagnostic approach of hypogammaglobulinemia in infancy

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

Differentiating PFAPA syndrome from monogenic periodic fevers

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency

Functional defects of dendritic cells in patients with CD40 deficiency

Genetic causes of bronchiectasis: primary immune deficiencies and the lung

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

ICOS deficiency in patients with common variable immunodeficiency.

Ig beta deficiency in humans

Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

Inherited Human gp91 phox Deficiency Is Associated With Impaired Isoprostane Formation and Platelet Dysfunction

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

NOX 5 is expressed in platelets from patients with chronic granulomatous disease

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Nosocomial Rotavirus Gastroenteritis in pediatric patients: a multi-center prospective cohort study.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

Screening of functional and positional candidate genes in families with common variable immunodeficiency

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors

The change in Ig regulation from children to adults disconnects the correlation with the 3'RR hs1.2 polymorphism

The quality of life of children and adolescents with X-linked agammaglobulinemia

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children.

Type I interferon-dependent gene MxA in perinatal HIV-infected patients under antiretroviral therapy as marker for therapy failure and blood plasmacytoid dendritic cells depletion

Update on treatment of Marshall's syndrome (PFAPA syndrome): report of five cases with review of the literature

Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases

Viral double-stranded RNA triggers Ig class switching by activating upper respiratory mucosa B cells through an innate TLR3 pathway involving BAFF.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production