Lista de obras -

A Computational Pipeline for the Diagnosis of CVID Patients

artículo científico publicado en 2019

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

artículo científico publicado en 2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

artículo científico publicado en 2017

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

artículo científico publicado en 2018

Achromobacter xylosoxidans in cystic fibrosis: prevalence and clinical relevance

artículo científico publicado en 2006

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

artículo científico publicado en 2020

Birdshot-like chorioretinopathy in common variable immunodeficiency

artículo científico publicado en 2012

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

artículo científico publicado en 2020

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

artículo científico publicado en 2020

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

artículo científico publicado en 2016

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

artículo científico publicado en 2010

Colistin and neurotoxicity: recommendations for optimal use in cystic fibrosis patients

artículo científico publicado en 2015

Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients

artículo científico publicado en 2010

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.

artículo científico publicado en 2013

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies

artículo científico publicado en 2019

Development and validation of an LC tandem MS assay for the quantification of β-lactam antibiotics in the sputum of cystic fibrosis patients.

artículo científico publicado en 2017

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

artículo científico publicado en 2008

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

artículo científico publicado en 2017

Eradication therapy for Pseudomonas aeruginosa colonization episodes in cystic fibrosis patients not chronically colonized by P. aeruginosa

artículo científico publicado en 2012

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

artículo científico publicado en 2016

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

scientific article published on 19 March 2020

Exercise performance and quality of life in children with cystic fibrosis and mildly impaired lung function: relation with antibiotic treatments and hospitalization.

artículo científico publicado en 2017

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

artículo científico publicado en 2016

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

artículo científico publicado en 2019

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

artículo científico publicado en 2016

Genes at the Crossroad of Primary Immunodeficiencies and Cancer

article

Genotype based evaluation of Pseudomonas aeruginosa eradication treatment success in cystic fibrosis patients

artículo científico publicado en 2009

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

artículo científico publicado en 2019

Human genetic and immunological determinants of critical COVID-19 pneumonia

artículo científico publicado en 2022

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

artículo científico publicado en 2018

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

artículo científico publicado en 2014

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

artículo científico publicado en 2017

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

Malacia, inflammation and bronchoalveolar lavage culture in children with persistent respiratory symptoms ⬇️

artículo científico publicado el 20 de julio de 2011

Milk protein and Oil-Red-O staining of alveolar macrophages in chronic respiratory disease of infancy

artículo científico publicado en 2010

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

artículo científico publicado en 2013

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

artículo científico publicado en 2020

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

artículo científico publicado en 2010

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination.

artículo científico publicado en 2015

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency

artículo científico publicado en 2020

Pneumococcal antibody levels in children with PID receiving immunoglobulin

artículo científico publicado en 2013

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

artículo científico publicado en 2010

Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1.

artículo científico publicado en 2017

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives ⬇️

artículo científico publicado en 2016

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

artículo científico publicado en 2017

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

scientific article published on 22 March 2019

Lista de obras de

A Computational Pipeline for the Diagnosis of CVID Patients

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

Achromobacter xylosoxidans in cystic fibrosis: prevalence and clinical relevance

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Birdshot-like chorioretinopathy in common variable immunodeficiency

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

Colistin and neurotoxicity: recommendations for optimal use in cystic fibrosis patients

Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies

Development and validation of an LC tandem MS assay for the quantification of β-lactam antibiotics in the sputum of cystic fibrosis patients.

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Eradication therapy for Pseudomonas aeruginosa colonization episodes in cystic fibrosis patients not chronically colonized by P. aeruginosa

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

Exercise performance and quality of life in children with cystic fibrosis and mildly impaired lung function: relation with antibiotic treatments and hospitalization.

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Genes at the Crossroad of Primary Immunodeficiencies and Cancer

Genotype based evaluation of Pseudomonas aeruginosa eradication treatment success in cystic fibrosis patients

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Human genetic and immunological determinants of critical COVID-19 pneumonia

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

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

Malacia, inflammation and bronchoalveolar lavage culture in children with persistent respiratory symptoms ⬇️

Milk protein and Oil-Red-O staining of alveolar macrophages in chronic respiratory disease of infancy

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination.

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency

Pneumococcal antibody levels in children with PID receiving immunoglobulin

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1.

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives ⬇️

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world