Lista de obras - Kerry Dobbs - Dominio Público Uruguay

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

artículo científico publicado en 2008

A novel mutation in the POLE2 gene causing combined immunodeficiency.

artículo científico publicado en 2015

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

artículo científico publicado en 2007

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

artículo científico publicado en 2013

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

scientific article published on 30 August 2018

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

artículo científico publicado en 2012

Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19

artículo científico publicado en 2011

Architecture of the human PI4KIIIα lipid kinase complex

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

artículo científico

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

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

scientific article published on 30 April 2019

Defining a new immune deficiency syndrome: MAN2B2-CDG

scientific article published on 24 November 2019

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

artículo científico publicado en 2014

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

artículo científico publicado en 2017

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

artículo científico publicado en 2017

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

artículo científico publicado en 2017

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

artículo científico publicado en 2019

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

artículo científico publicado en 2015

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin

artículo científico publicado en 2011

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

artículo científico publicado en 2022

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

Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient

scientific article published on 02 November 2015

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

artículo científico publicado en 2014

PAX1 is essential for development and function of the human thymus

artículo científico publicado en 2020

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

artículo científico publicado en 2018

Production and persistence of specific antibodies in COVID-19 patients with hematologic malignancies: role of rituximab

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

artículo científico publicado en 2015

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

Time-resolved systems immunology reveals a late juncture linked to fatal COVID-19

artículo científico publicado en 2021

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

artículo científico publicado en 2013

Lista de obras de Kerry Dobbs

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19

Architecture of the human PI4KIIIα lipid kinase complex

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

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

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

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

Defining a new immune deficiency syndrome: MAN2B2-CDG

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

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

Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin

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

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

Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

PAX1 is essential for development and function of the human thymus

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Production and persistence of specific antibodies in COVID-19 patients with hematologic malignancies: role of rituximab

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Severe influenza pneumonitis in children with inherited TLR3 deficiency

T-cell defects in patients with germline mutations account for combined immunodeficiency

Time-resolved systems immunology reveals a late juncture linked to fatal COVID-19

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.