Lista de obras - Janine Reichenbach - Dominio Público Uruguay

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

Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen.

artículo científico publicado en 2009

Anti-oxidative capacity in patients with ataxia telangiectasia

Antioxidative capacity in patients with common variable immunodeficiency

scientific article published on 01 May 2000

Autophagy proteins stabilize pathogen-containing phagosomes for prolonged MHC II antigen processing.

artículo científico publicado en 2013

Autosomal-dominant primary immunodeficiencies

artículo científico publicado en 2005

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

CRISPR/Cas9-generated p47phox-deficient cell line for Chronic Granulomatous Disease gene therapy vector development

artículo científico publicado en 2017

Catapult-like release of mitochondrial DNA by eosinophils contributes to antibacterial defense

artículo científico publicado en 2008

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

artículo científico

Defective nuclear entry of hydrolases prevents neutrophil extracellular trap formation in patients with chronic granulomatous disease

artículo científico publicado en 2015

Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia

artículo científico publicado en 2002

Derivation and functional analysis of patient-specific induced pluripotent stem cells as an in vitro model of chronic granulomatous disease

artículo científico publicado en 2012

Development of a pCCLChim Lentiviral Vector for Gene Therapy of Patients with Chronic Granulomatous Disease (CGD) due to p47-phox Deficiency

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

artículo científico publicado en 2010

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

artículo científico publicado en 2018

Effectiveness of budesonide nebulising suspension compared to disodium cromoglycate in early childhood asthma

artículo científico publicado en 2006

Elevated oxidative stress in patients with ataxia telangiectasia

artículo científico publicado en 2002

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

artículo científico publicado en 2010

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

artículo científico publicado en 2006

First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching

artículo científico publicado en 2008

From idiopathic infectious diseases to novel primary immunodeficiencies

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Gene therapy for chronic granulomatous disease: current status and future perspectives.

artículo científico

Gene therapy of chronic granulomatous disease: the engraftment dilemma

artículo científico publicado en 2010

Growth factor deficiency in patients with ataxia telangiectasia

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

artículo científico publicado en 2011

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

artículo científico publicado en 2019

Human miR223 promoter as a novel myelo-specific promoter for chronic granulomatous disease gene therapy

artículo científico publicado en 2013

Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions

artículo científico publicado en 2016

IMMUNOGENICITY OF THE SEVEN VALENT PNEUMOCOCCAL CONJUGATE VACCINE IN PATIENTS WITH ATAXIA-TELANGIECTASIA

artículo científico publicado en 2004

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Immunogenicity and tolerance of a 7-valent pneumococcal conjugate vaccine in nonresponders to the 23-valent pneumococcal vaccine

artículo científico publicado en 2000

Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies

artículo científico publicado en 2006

Impaired TH17 Cell Production In Patients With Chronic Candida albicans Infections

scholarly article by E.D. Renner et al published February 2010 in The Journal of Allergy and Clinical Immunology

Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood

artículo científico publicado en 2001

Impaired interferon-gamma production in response to live bacteria and Toll-like receptor agonists in patients with ataxia telangiectasia

article by Janine Reichenbach et al published December 2006 in Clinical and Experimental Immunology

Increased number of activated T cells in lymphocyte subsets of maltreated children: data from a pilot study

artículo científico publicado en 2012

Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease

artículo científico publicado en 2010

Intact indoleamine 2,3-dioxygenase activity in human chronic granulomatous disease

artículo científico publicado en 2010

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

artículo científico publicado en 2001

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

artículo científico publicado en 2016

Modern management of phagocyte defects

artículo científico publicado en 2016

Modern management of primary B-cell immunodeficiencies

artículo científico

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

artículo científico publicado en 2008

Mycobacterial diseases in primary immunodeficiencies.

artículo científico publicado en 2001

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

artículo científico publicado en 2011

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

artículo científico publicado en 2015

Non-invasive near-infrared fluorescence imaging of the neutrophil response in a mouse model of transient cerebral ischaemia

artículo científico publicado en 2016

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2004

Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report.

artículo científico publicado en 2018

Preliminary Evidence for a Compromised T-Cell Compartment in Maltreated Children with Depression and Posttraumatic Stress Disorder

artículo científico publicado en 2015

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

artículo científico publicado en 2011

Reactive oxygen species abrogate the anticarcinogenic effect of eicosapentaenoic acid in Atm-deficient mice

artículo científico publicado en 2010

Reply

scholarly article by Matteo Bianchi et al published September 2011 in The Journal of Allergy and Clinical Immunology

Reply to Agger and Kowalski

scholarly article by Steven M. Holland & Janine Reichenbach published May 2010 in Clinical Infectious Diseases

Response: Protecting against Aspergillus infection in CGD.

artículo científico publicado en 2009

Restoration of NET formation by gene therapy in CGD controls aspergillosis

artículo científico publicado en 2009

Restoration of anti-Aspergillus defense by neutrophil extracellular traps in human chronic granulomatous disease after gene therapy is calprotectin-dependent

artículo científico publicado en 2011

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

artículo científico publicado en 2010

S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections

scholarly article by Ellen Renner et al published 2009 in Clinical Immunology

Safety and tolerability of methacholine challenge in infants with recurrent wheeze

artículo científico publicado en 2003

Serum ECP levels and methacholine challenge in infants with recurrent wheezing

artículo científico publicado en 2002

Severe adenovirus bronchiolitis in children

artículo científico publicado en 2000

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis

artículo científico publicado en 2016

Signed outside: a surface marker system for transgenic cytoplasmic proteins

artículo científico publicado en 2010

Spontaneous and oxidative stress-induced programmed cell death in lymphocytes from patients with ataxia telangiectasia (AT).

artículo científico publicado en 2000

Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing

artículo científico publicado en 2015

TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells

artículo científico publicado en 2015

The Hyper-IgE Syndromes: Evaluation Of Over 80 Patients With Eczema And Elevated Serum Ige

scholarly article by E.D. Renner et al published February 2011 in The Journal of Allergy and Clinical Immunology

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

artículo científico publicado en 2006

The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014.

artículo científico publicado en 2015

Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome

artículo científico publicado en 2006

Unusual dermatological presentation and immune phenotype in SCID due to anIL7Rmutation: the value of whole-exome sequencing and the potential benefit of newborn screening

artículo científico publicado en 2016

Lista de obras de Janine Reichenbach

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

Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen.

Anti-oxidative capacity in patients with ataxia telangiectasia

Antioxidative capacity in patients with common variable immunodeficiency

Autophagy proteins stabilize pathogen-containing phagosomes for prolonged MHC II antigen processing.

Autosomal-dominant primary immunodeficiencies

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

CRISPR/Cas9-generated p47phox-deficient cell line for Chronic Granulomatous Disease gene therapy vector development

Catapult-like release of mitochondrial DNA by eosinophils contributes to antibacterial defense

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

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

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

Defective nuclear entry of hydrolases prevents neutrophil extracellular trap formation in patients with chronic granulomatous disease

Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia

Derivation and functional analysis of patient-specific induced pluripotent stem cells as an in vitro model of chronic granulomatous disease

Development of a pCCLChim Lentiviral Vector for Gene Therapy of Patients with Chronic Granulomatous Disease (CGD) due to p47-phox Deficiency

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

Effectiveness of budesonide nebulising suspension compared to disodium cromoglycate in early childhood asthma

Elevated oxidative stress in patients with ataxia telangiectasia

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching

From idiopathic infectious diseases to novel primary immunodeficiencies

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Gene therapy for chronic granulomatous disease: current status and future perspectives.

Gene therapy of chronic granulomatous disease: the engraftment dilemma

Growth factor deficiency in patients with ataxia telangiectasia

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

Human miR223 promoter as a novel myelo-specific promoter for chronic granulomatous disease gene therapy

Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions

IMMUNOGENICITY OF THE SEVEN VALENT PNEUMOCOCCAL CONJUGATE VACCINE IN PATIENTS WITH ATAXIA-TELANGIECTASIA

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards

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

Immunogenicity and tolerance of a 7-valent pneumococcal conjugate vaccine in nonresponders to the 23-valent pneumococcal vaccine

Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies

Impaired TH17 Cell Production In Patients With Chronic Candida albicans Infections

Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood

Impaired interferon-gamma production in response to live bacteria and Toll-like receptor agonists in patients with ataxia telangiectasia

Increased number of activated T cells in lymphocyte subsets of maltreated children: data from a pilot study

Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease

Intact indoleamine 2,3-dioxygenase activity in human chronic granulomatous disease

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Modern management of phagocyte defects

Modern management of primary B-cell immunodeficiencies

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

Mycobacterial diseases in primary immunodeficiencies.

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

Non-invasive near-infrared fluorescence imaging of the neutrophil response in a mouse model of transient cerebral ischaemia

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

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

Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report.

Preliminary Evidence for a Compromised T-Cell Compartment in Maltreated Children with Depression and Posttraumatic Stress Disorder

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

Reactive oxygen species abrogate the anticarcinogenic effect of eicosapentaenoic acid in Atm-deficient mice

Reply

Reply to Agger and Kowalski

Response: Protecting against Aspergillus infection in CGD.

Restoration of NET formation by gene therapy in CGD controls aspergillosis

Restoration of anti-Aspergillus defense by neutrophil extracellular traps in human chronic granulomatous disease after gene therapy is calprotectin-dependent

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

S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections

Safety and tolerability of methacholine challenge in infants with recurrent wheeze

Serum ECP levels and methacholine challenge in infants with recurrent wheezing

Severe adenovirus bronchiolitis in children

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis

Signed outside: a surface marker system for transgenic cytoplasmic proteins

Spontaneous and oxidative stress-induced programmed cell death in lymphocytes from patients with ataxia telangiectasia (AT).

Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing

TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells

The Hyper-IgE Syndromes: Evaluation Of Over 80 Patients With Eczema And Elevated Serum Ige

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

The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014.

Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome