Lista de obras -

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

artículo científico publicado en 2020

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

artículo científico publicado en 2016

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

artículo científico publicado en 2017

A novel internalization motif regulates human IFN-γ R1 endocytosis

artículo científico publicado en 2012

A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans

artículo científico publicado en 2011

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

artículo científico publicado en 2009

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies

artículo científico publicado en 2014

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Bone marrow findings at diagnosis in patients with multisystem langerhans cell histiocytosis

artículo científico publicado en 2010

Bone marrow plasma cells are a primary source of serum HIV-1-specific antibodies in chronically infected individuals

artículo científico publicado en 2015

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

artículo científico publicado en 2015

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

artículo científico publicado en 2015

Common severe infections in chronic granulomatous disease

artículo científico publicado en 2014

Congenital defects in the interferon-gamma/interleukin-12 pathway

artículo científico publicado en 2004

Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

artículo científico publicado en 2020

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

artículo científico publicado en 2002

Defects in the interferon-gamma and interleukin-12 pathways

artículo científico publicado en 2005

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

artículo científico publicado en 2014

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

artículo científico publicado en 2014

Germline hypomorphic CARD11 mutations in severe atopic disease

artículo científico publicado en 2017

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology

artículo científico publicado en 2015

Glycosylation, hypogammaglobulinemia, and resistance to viral infections

artículo científico publicado en 2014

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

artículo científico publicado en 2017

Hepatitis A-associated macrophage activation syndrome in children with systemic juvenile idiopathic arthritis: report of 2 cases

artículo científico publicado en 2007

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation

artículo científico publicado en 2014

Laboratory evaluation for T-cell dysfunction

artículo científico publicado en 2013

Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions

artículo científico publicado en 2015

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

artículo científico publicado en 2020

NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells.

artículo científico publicado en 2008

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

artículo científico publicado en 2015

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

artículo científico publicado en 2017

Phagocyte immunodeficiencies and their infections

artículo científico publicado en 2004

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

artículo científico publicado en 2016

Recent insights into the pathobiology of innate immune deficiencies

artículo científico publicado en 2011

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

artículo científico publicado en 2016

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

artículo científico publicado en 2007

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

artículo científico publicado en 2017

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

article by Hirotsugu Oda et al published 2019 in Frontiers in Immunology

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

scientific article published on 28 March 2013

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects

artículo científico publicado en 2017

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

artículo científico publicado en 2014

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

artículo científico publicado en 2014

X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

artículo científico publicado en 2017

Lista de obras de

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

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

A novel internalization motif regulates human IFN-γ R1 endocytosis

A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Bone marrow findings at diagnosis in patients with multisystem langerhans cell histiocytosis

Bone marrow plasma cells are a primary source of serum HIV-1-specific antibodies in chronically infected individuals

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

Common severe infections in chronic granulomatous disease

Congenital defects in the interferon-gamma/interleukin-12 pathway

Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

Defects in the interferon-gamma and interleukin-12 pathways

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

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

Early-onset stroke and vasculopathy associated with mutations in ADA2

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

Germline hypomorphic CARD11 mutations in severe atopic disease

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology

Glycosylation, hypogammaglobulinemia, and resistance to viral infections

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

Hepatitis A-associated macrophage activation syndrome in children with systemic juvenile idiopathic arthritis: report of 2 cases

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

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

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation

Laboratory evaluation for T-cell dysfunction

Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells.

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

Phagocyte immunodeficiencies and their infections

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Recent insights into the pathobiology of innate immune deficiencies

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability