Lista de obras -

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

artículo científico publicado en 2003

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

artículo científico publicado en 2016

A protease-activatable luminescent biosensor and reporter cell line for authentic SARS-CoV-2 infection

artículo científico publicado en 2022

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

artículo científico publicado en 2012

A thermostable, closed SARS-CoV-2 spike protein trimer

artículo científico publicado en 2020

A thermostable, closed, SARS-CoV-2 spike protein trimer

artículo científico publicado en 2020

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. ⬇️

artículo científico publicado en 2018

Aberrant disgust responses and immune reactivity in cocaine-dependent men.

scientific article published on 03 October 2013

Accelerated waning of the humoral response to COVID-19 vaccines in obesity

artículo científico publicado en 2023

Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2

artículo científico publicado en 2021

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Analysis of Serological Biomarkers of SARS-CoV-2 Infection in Convalescent Samples From Severe, Moderate and Mild COVID-19 Cases

artículo científico publicado en 2021

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia

article

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

artículo científico publicado en 2017

Anticytokine autoantibodies in infection and inflammation: an update.

artículo científico publicado en 2016

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options

artículo científico publicado en 2019

Atypical B cells and impaired SARS-CoV-2 neutralization following heterologous vaccination in the elderly

artículo científico publicado en 2023

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

artículo científico publicado en 2010

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

scientific article published on 17 May 2020

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

artículo científico publicado en 2003

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases ⬇️

artículo científico publicado en 2017

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

artículo científico publicado en 2014

BCG induced lupus vulgaris: an unexpected adverse event

artículo científico publicado en 2017

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

artículo científico publicado en 2004

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

artículo científico publicado en 2016

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

artículo científico publicado en 2018

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

artículo científico publicado en 2017

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

artículo científico publicado en 2010

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

artículo científico publicado en 2016

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

artículo científico publicado en 2016

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency

artículo científico publicado en 2014

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

artículo científico publicado en 2017

Disseminated Mycobacterium tuberculosis infection due to interferon gamma deficiency. Response to replacement therapy

artículo científico publicado en 2007

Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults

artículo científico publicado en 2010

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host

artículo científico publicado en 2016

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

artículo científico publicado en 2020

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

scientific article published on 20 December 2019

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

artículo científico publicado en 2017

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

artículo científico publicado en 2017

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity

artículo científico publicado en 2006

Human immunodeficiencies that predispose to intracellular bacterial infections

artículo científico publicado en 2005

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

scientific article published on 30 April 2019

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

artículo científico publicado en 2008

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease

artículo científico publicado en 2020

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

artículo científico publicado en 2014

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

artículo científico publicado en 2010

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

artículo científico publicado en 2009

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses

scientific article published on 31 August 2020

Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis: effects on frequency of acute exacerbation and all-cause hospital admission

scientific article published on 30 March 2020

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

artículo científico publicado en 2012

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

artículo científico publicado en 2016

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

artículo científico publicado en 2010

Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

article

Novel Mutation in a Patient With APLAID and Cutis Laxa

artículo científico publicado en 2018

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

artículo científico publicado en 2004

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

artículo científico publicado en 2002

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

article

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

artículo científico publicado en 2013

Pneumococcal polysaccharide vaccine responses are impaired in a subgroup of children with cystic fibrosis.

artículo científico publicado en 2014

Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency

artículo científico publicado en 2015

Recurrent mycobacterial infections in a patient with IL-12 deficiency

artículo científico publicado en 2009

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

artículo científico publicado en 2010

SARS-CoV-2 B.1.1.7 sensitivity to mRNA vaccine-elicited, convalescent and monoclonal antibodies

artículo científico publicado en 2021

SARS-CoV-2 Omicron spike mediated immune escape, infectivity and cell-cell fusion

SARS-CoV-2 evolution during treatment of chronic infection

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

artículo científico publicado en 2021

Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

artículo científico publicado en 2020

Specific antibody deficiency in children with chronic wet cough.

artículo científico publicado en 2012

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

artículo científico publicado en 2015

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

artículo científico publicado en 2006

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

artículo científico publicado en 2002

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

artículo científico publicado en 2020

Lista de obras de

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

A protease-activatable luminescent biosensor and reporter cell line for authentic SARS-CoV-2 infection

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

A thermostable, closed SARS-CoV-2 spike protein trimer

A thermostable, closed, SARS-CoV-2 spike protein trimer

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. ⬇️

Aberrant disgust responses and immune reactivity in cocaine-dependent men.

Accelerated waning of the humoral response to COVID-19 vaccines in obesity

Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Analysis of Serological Biomarkers of SARS-CoV-2 Infection in Convalescent Samples From Severe, Moderate and Mild COVID-19 Cases

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Anticytokine autoantibodies in infection and inflammation: an update.

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options

Atypical B cells and impaired SARS-CoV-2 neutralization following heterologous vaccination in the elderly

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases ⬇️

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

BCG induced lupus vulgaris: an unexpected adverse event

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

Disseminated Mycobacterium tuberculosis infection due to interferon gamma deficiency. Response to replacement therapy

Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity

Human immunodeficiencies that predispose to intracellular bacterial infections

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

IRF8 mutations and human dendritic-cell immunodeficiency

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses

Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis: effects on frequency of acute exacerbation and all-cause hospital admission

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

Novel Mutation in a Patient With APLAID and Cutis Laxa

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Pneumococcal polysaccharide vaccine responses are impaired in a subgroup of children with cystic fibrosis.

Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency

Recurrent mycobacterial infections in a patient with IL-12 deficiency

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

SARS-CoV-2 B.1.1.7 sensitivity to mRNA vaccine-elicited, convalescent and monoclonal antibodies

SARS-CoV-2 Omicron spike mediated immune escape, infectivity and cell-cell fusion

SARS-CoV-2 evolution during treatment of chronic infection

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Specific antibody deficiency in children with chronic wet cough.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

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

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia