Lista de obras -

(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

artículo científico publicado en 2019

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

artículo científico publicado en 2012

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease

artículo científico publicado en 2014

Assessment of atherosclerosis in chronic granulomatous disease

artículo científico publicado en 2014

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease

artículo científico publicado en 2013

Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) ⬇️

artículo científico publicado el 12 de diciembre de 2011

CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.

artículo científico publicado en 2017

Common severe infections in chronic granulomatous disease

artículo científico publicado en 2014

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

artículo científico publicado en 2016

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

artículo científico publicado en 2015

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

artículo científico publicado en 2010

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

artículo científico publicado en 2011

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

artículo científico publicado en 2016

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

artículo científico publicado en 2019

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

artículo científico publicado en 2022

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

artículo científico publicado en 2011

Residual NADPH oxidase and survival in chronic granulomatous disease ⬇️

artículo científico publicado en 2010

STAT3 mutations in the hyper-IgE syndrome

artículo científico publicado en 2007

Serologic reactivity to the emerging pathogen Granulibacter bethesdensis

artículo científico publicado en 2012

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease

artículo científico publicado en 2010

Lista de obras de

(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease

Assessment of atherosclerosis in chronic granulomatous disease

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease

Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) ⬇️

CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.

Common severe infections in chronic granulomatous disease

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Residual NADPH oxidase and survival in chronic granulomatous disease ⬇️

STAT3 mutations in the hyper-IgE syndrome

Serologic reactivity to the emerging pathogen Granulibacter bethesdensis

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease