Lista de obras - Ariane Chapgier - Dominio Público Uruguay

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

artículo científico publicado en 2007

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

artículo científico publicado en 2009

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

Autosomal-dominant primary immunodeficiencies

artículo científico publicado en 2005

BCG-osis and tuberculosis in a child with chronic granulomatous disease

scholarly article by Jacinta Bustamante et al published July 2007 in The Journal of Allergy and Clinical Immunology

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

artículo científico publicado en 2008

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

scholarly article published in Seminars in Immunology

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

artículo científico publicado en 2005

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

artículo científico publicado en 2009

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

article by Maria N. Tsolia et al published 7 April 2006 in European Journal of Pediatrics

Distinct factors control histone variant H3.3 localization at specific genomic regions

artículo científico publicado en 2010

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

Gains of glycosylation mutations

artículo científico publicado en 2006

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

artículo científico publicado en 2011

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

artículo científico publicado en 2016

HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells

scientific article published on 20 July 2018

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Hira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells

artículo científico publicado en 2013

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

artículo científico publicado en 2006

Human primary immunodeficiencies of type I interferons

artículo científico publicado en 2007

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

artículo científico publicado en 2003

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

artículo científico publicado en 2006

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

artículo científico publicado en 2008

Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français

artículo científico publicado en 2007

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

artículo científico publicado en 2008

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

artículo científico publicado en 2005

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

artículo científico publicado en 2011

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Prédisposition génétique et infections de l'enfant

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

artículo científico publicado en 2009

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

artículo científico publicado en 2006

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

artículo científico publicado en 2006

TLR3 deficiency in patients with herpes simplex encephalitis

artículo científico publicado en 2007

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

artículo científico publicado en 2011

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

artículo científico publicado en 2015

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

artículo científico publicado en 2006

Lista de obras de Ariane Chapgier

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

A partial form of recessive STAT1 deficiency in humans

Autosomal-dominant primary immunodeficiencies

BCG-osis and tuberculosis in a child with chronic granulomatous disease

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

Distinct factors control histone variant H3.3 localization at specific genomic regions

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Gains of glycosylation mutations

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Hira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

Human primary immunodeficiencies of type I interferons

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

Prédisposition génétique et infections de l'enfant

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

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

TLR3 deficiency in patients with herpes simplex encephalitis

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production