List of works - Janine Reichenbach

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

scientific article published on 10 August 2008

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

scientific article

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

scientific article published on July 2008

Restoration of NET formation by gene therapy in CGD controls aspergillosis

scientific article published on 18 June 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 21 May 2010

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

scientific article

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

scientific article

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

scientific article (publication date: 15 July 2001)

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

scientific article

Elevated oxidative stress in patients with ataxia telangiectasia

scientific article

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

scientific article published on 01 November 2004

Gene therapy of chronic granulomatous disease: the engraftment dilemma

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on April 2012

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

scientific article published on 21 April 2016

Mycobacterial diseases in primary immunodeficiencies.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 September 2010

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

scientific article

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

scientific article published on 15 May 2015

Anti-oxidative capacity in patients with ataxia telangiectasia

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

scientific article published on 3 August 2015

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

scientific article published in July 2002

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

scientific article

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

scientific article

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

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

scientific article published on 21 October 2015

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.

scientific article published on June 2010

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

scientific article

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

scientific article published on 21 May 2012

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

scientific article

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.

scientific article published on 16 March 2018

From idiopathic infectious diseases to novel primary immunodeficiencies

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

scientific article

Growth factor deficiency in patients with ataxia telangiectasia

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

scientific article published on 27 March 2018

Modern management of primary B-cell immunodeficiencies

scientific article published on December 2011

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

scientific article

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

scientific article published on 01 March 2004

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

scientific article published on 02 May 2013

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

scientific article published on 22 July 2016

List of works by Janine Reichenbach

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

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

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

Restoration of NET formation by gene therapy in CGD controls aspergillosis

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

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

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

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

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

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

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

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

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

Elevated oxidative stress in patients with ataxia telangiectasia

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

Gene therapy of chronic granulomatous disease: the engraftment dilemma

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

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

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

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

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

Mycobacterial diseases in primary immunodeficiencies.

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

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

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

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

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

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

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

Anti-oxidative capacity in patients with ataxia telangiectasia

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

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

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

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

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

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

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.

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

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

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.

From idiopathic infectious diseases to novel primary immunodeficiencies

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

Growth factor deficiency in patients with ataxia telangiectasia

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

Modern management of primary B-cell immunodeficiencies

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

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

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

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