List of works - Stephanie Boisson-Dupuis

A New Patient with Inherited TYK2 Deficiency

scientific article published on 11 November 2019

A genome-wide association study of pulmonary tuberculosis in Morocco

scientific article published on 14 January 2016

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

scientific article

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

scientific article published on 3 June 2004

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

scientific article

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

scientific article

A novel kindred with inherited STAT2 deficiency and severe viral illness

scientific article published on 5 January 2017

A partial form of recessive STAT1 deficiency in humans

scientific article

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

scientific article

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

scientific article published on 14 November 2016

ARHGAP10 is necessary for alpha-catenin recruitment at adherens junctions and for Listeria invasion

scientific article published on 25 September 2005

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

scientific article published on 14 May 2011

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

scientific article published on 14 February 2013

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

scientific article published on 14 December 2016

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

scientific article published on 9 October 2017

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

scientific article

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

scientific article published on 24 September 2020

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

scientific article published on 18 May 2018

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

scientific article

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

scientific article published on January 2011

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

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

scientific article

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

scientific article

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

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

scientific article published on 14 July 2008

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

scientific article published on 6 December 2017

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

scientific article published on 7 June 2012

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scholarly article published in Journal of Clinical Immunology

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

scientific article

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

scientific article

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gains of glycosylation mutations

scientific article

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

scientific article published in December 2011

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

scientific article published on 07 December 2016

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

scientific article

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

scientific article

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

scientific article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

Helper T cell immunity in humans with inherited CD4 deficiency

scientific article published in 2024

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

scientific article published on 12 April 2013

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

scientific article published on 01 December 2018

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

scientific article published on 27 August 2020

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

scientific article

Human genetics of tuberculosis

scientific article published on January 2013

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article

Human primary immunodeficiencies of type I interferons

scientific article published on 8 May 2007

IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

scientific article published on 8 March 2013

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

scientific article (publication date: 13 April 2011)

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

scientific article

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

scientific article published on 24 October 2013

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

ISG15: leading a double life as a secreted molecule

scientific article published on 12 April 2013

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

scientific article published on 25 September 2006

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

scientific article

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

scientific article published on December 2008

Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling

scientific article published on 09 May 2007

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

scientific article

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

scientific article published on March 2013

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

scientific article published on 28 June 2021

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

scientific article published on March 2015

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

scientific article published on 13 April 2011

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

scientific article published on 24 August 2018

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

scientific article published on 21 December 2015

Mendelian susceptibility to mycobacterial disease in egyptian children

scientific article

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

scientific article

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

scientific article

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

scientific article published on 07 July 2015

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

scientific article published on 29 February 2012

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

scientific article

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

scientific article

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

scientific article

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

scientific article

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

scientific article

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

scientific article published on 26 May 2011

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

scientific article

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

scientific article published on February 2008

P03-025 – Differential diagnosis of autoimmune disorders

scientific article

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

scientific article

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

scientific article published on 20 August 2013

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

scientific article

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

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review

scientific article

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

scientific article published on December 2015

Primary immunodeficiencies of protective immunity to primary infections

scientific article published on 16 March 2010

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

scholarly article published 4 June 2014

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

scientific article

STAT1-dependent IgG cell-surface expression in a human B cell line derived from a STAT1-deficient patient

scientific article

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

scientific article published on 4 May 2015

Salmonella vertebral osteitis and sepsis in a girl with interferon gamma pathway deficiency.

scientific article published in January 2012

Septins regulate bacterial entry into host cells

scientific article

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scientific article

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

scientific article published on 16 December 2013

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

scientific article

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

scientific article published in April 2011

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

The monogenic basis of human tuberculosis

scientific article published on 13 February 2020

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

scientific article

Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency

scientific article

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

scientific article

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

scientific article published on 11 July 2016

Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children

scientific article published on December 2016

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

scientific article

List of works by Stephanie Boisson-Dupuis

A New Patient with Inherited TYK2 Deficiency

A genome-wide association study of pulmonary tuberculosis in Morocco

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

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

A novel kindred with inherited STAT2 deficiency and severe viral illness

A partial form of recessive STAT1 deficiency in humans

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

ARHGAP10 is necessary for alpha-catenin recruitment at adherens junctions and for Listeria invasion

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

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

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

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

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

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

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

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

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

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Gains of glycosylation mutations

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

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

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Helper T cell immunity in humans with inherited CD4 deficiency

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human genetics of tuberculosis

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Human primary immunodeficiencies of type I interferons

IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

IRF8 mutations and human dendritic-cell immunodeficiency

ISG15: leading a double life as a secreted molecule

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

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

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

Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

Mendelian susceptibility to mycobacterial disease in egyptian children

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

P03-025 – Differential diagnosis of autoimmune disorders