S. Boisson-Dupuis

J. Casanova, F. Ailal, C. Deswarte, 2016, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells

J. Casanova, A. Bousfiha, S. Tangye, 2022, Science Immunology.

Transduction of Herpesvirus saimiri‐Transformed T Cells with Exogenous Genes of Interest

J. Casanova, B. Fleckenstein, J. Markle, 2016, Current protocols in immunology.

Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review

J. Casanova, M. Garrè, G. Morana, 2014, Journal of Clinical Immunology.

Induction of MxA Gene Expression by Inﬂuenza A Virus Requires Type I or Type III Interferon Signaling (cid:1)

J. Casanova, G. Kochs, S. Stertz, 2007 .

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

J. Casanova, C. Nathan, B. Bigio, 2020, The New England journal of medicine.

A novel kindred with inherited STAT2 deficiency and severe viral illness.

J. Casanova, A. Liston, Shen-Ying Zhang, 2017, The Journal of allergy and clinical immunology.

Primary immunodeficiencies of protective immunity to primary infections.

J. Casanova, A. Bousfiha, C. Picard, 2010, Clinical immunology.

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

J. Casanova, C. Picard, E. Jouanguy, 2006, Seminars in immunology.

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

J. Casanova, L. Abel, A. Lahlou, 2019, PloS one.

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

J. Casanova, A. Schulz, D. Jonigk, 2020, Cells.

A novel form of complete IL-12/IL-23 receptor (cid:1) 1 deﬁciency with cell surface–expressed nonfunctional receptors

J. Casanova, F. Candotti, M. Bosticardo, 2004 .

Disease Caused by Klebsiella in 2 Unrelated

J. Casanova, C. Picard, M. Herrera, 2010 .

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

J. Casanova, J. Uitto, L. Abel, 2022, The Journal of experimental medicine.

Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency

J. Casanova, A. Uchida, A. Matsumine, 2010, Journal of Medical Genetics.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

J. Casanova, L. F. Jobim, C. Deswarte, 2021, Journal of Clinical Immunology.

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

J. Casanova, T. Maniatis, R. Silverman, 2022, Science.

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

I. Dusanter-Fourt, G. Bornkamm, R. Fagard, 2010, Journal of leukocyte biology.

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

J. Casanova, C. Deswarte, D. Torgerson, 2017, Front. Microbiol..

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

J. Casanova, A. Puel, S. Okada, 2020, Journal of Clinical Immunology.

Induction of MxA Gene Expression by Influenza A Virus Requires Type I or Type III Interferon Signaling

J. Casanova, G. Kochs, S. Stertz, 2007, Journal of Virology.

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

A. Fischer, C. Bodemer, J. Casanova, 2011, The Journal of experimental medicine.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

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

J. Casanova, L. Abel, J. Bustamante, 2014, Seminars in immunology.

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

J. Casanova, C. Picard, L. Abel, 2011, Annals of the New York Academy of Sciences.

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

J. Casanova, P. Newburger, C. Picard, 2011, Nature Immunology.

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

J. Casanova, C. Picard, E. Jouanguy, 2006 .

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico

J. Casanova, A. Puel, M. Torres, 2022, Journal of Clinical Immunology.

Inherited human IFNγ deficiency underlies mycobacterial disease.

J. Casanova, R. Geha, W. Al-Herz, 2020, The Journal of clinical investigation.

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

J. Casanova, A. Sette, S. Tangye, 2018, Science Immunology.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of clinical immunology.

IL‐12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

J. Casanova, I. Tezcan, M. Martínez-Gallo, 2013, Human mutation.

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

J. Casanova, O. Ohara, A. Bousfiha, 2017, The Journal of allergy and clinical immunology.

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

J. Casanova, O. Ohara, C. Klein, 2016, Proceedings of the National Academy of Sciences.

Mycobacterial diseases in patients with inborn errors of immunity.

J. Bustamante, S. Boisson-Dupuis, J. Bustamante, 2021, Current opinion in immunology.

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

J. Casanova, N. Rezaei, M. Hassanzad, 2020, Journal of Clinical Immunology.

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

J. Casanova, C. Deswarte, N. Ramírez-Uribe, 2020, Journal of Clinical Immunology.

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

J. Casanova, J. Franco, B. Boisson, 2013, Blood.

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

J. Casanova, C. Picard, S. Holland, 2011, Human molecular genetics.

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

J. Casanova, J. Ziegler, Joanne M. Smart, 2015, The Journal of allergy and clinical immunology.

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

J. Casanova, T. Morio, A. Puel, 2014, Journal of leukocyte biology.

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

J. Casanova, L. Abel, A. Puel, 2012, Current Opinion in Immunology.

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

J. Casanova, J. Franco, C. Picard, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

J. Casanova, C. Rice, A. Abhyankar, 2012, Science.

IRF4 haploinsufficiency in a family with Whipple’s disease

D. Chaussabel, J. Casanova, S. Boughorbel, 2017, bioRxiv.

Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

J. Casanova, H. Ochs, S. Tangye, 2018, Science Immunology.

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

Steven M. Holland, Amelia Licari, Gian Luigi Marseglia, 2020, Science.

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

J. Casanova, D. Weil, N. Boddaert, 2021, Proceedings of the National Academy of Sciences.

Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review

J. Casanova, M. Garrè, G. Morana, 2014, Journal of Clinical Immunology.

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

Mohamed N. Jeljeli, J. Casanova, L. Kremer, 2023, Cell.

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

J. Casanova, L. Notarangelo, Y. Crow, 2014, Nature.

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

J. Casanova, A. Sette, L. Notarangelo, 2015, Science.

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

J. Casanova, A. Bousfiha, F. Ailal, 2020, Cell.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Jacques Fellay, Agatha Schlüter, Aurora Pujol, 2020, Science.

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

J. Casanova, J. Ziegler, Joanne M. Smart, 2013, Blood.

A partial form of recessive STAT1 deficiency in humans.

J. Casanova, Shen-Ying Zhang, L. Abel, 2009, The Journal of clinical investigation.

IRF8 mutations and human dendritic-cell immunodeficiency.

Damien Chaussabel, Xiao-Fei Kong, Florent Ginhoux, 2011, The New England journal of medicine.

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

J. Casanova, L. Notarangelo, E. Crestani, 2016, The Journal of experimental medicine.

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

J. Casanova, O. Sanal, A. Boland, 2011, Journal of Medical Genetics.

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.

P. Stenson, D. Cooper, A. Schlessinger, 2021, American journal of human genetics.

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

J. Casanova, L. Abel, S. Lyonnet, 2010, American journal of medical genetics. Part A.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of Clinical Immunology.

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

J. Casanova, L. Quintana-Murci, L. Abel, 2019, Proceedings of the National Academy of Sciences.

A genome-wide association study of pulmonary tuberculosis in Morocco

J. Casanova, C. Deswarte, A. Boland, 2016, Human Genetics.

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco

J. Casanova, C. Deswarte, A. Boland, 2014, The Journal of infectious diseases.

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

J. Casanova, A. Boland, L. Abel, 2013, American journal of human genetics.

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

J. Casanova, A. Bousfiha, L. Abel, 2011, PloS one.

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

C. Delacourt, J. Casanova, C. Deswarte, 2017, Scientific Reports.

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

A. Fischer, C. Bodemer, J. Casanova, 2011, Blood.

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

D. Chaussabel, J. Casanova, A. Bousfiha, 2015, The Journal of experimental medicine.

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

Sami Al-Hajjar, D. Chaussabel, J. Casanova, 2010, Blood.

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

Jacques Fellay, Aurora Pujol, Claire Redin, 2020, Cell.

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency

J. Casanova, E. Jouanguy, S. Al‐Muhsen, 2022, Journal of Clinical Immunology.

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

J. Casanova, A. Bousfiha, F. Ailal, 2015, Immunological reviews.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

J. Casanova, L. F. Jobim, C. Deswarte, 2021, Journal of Clinical Immunology.

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

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

J. Casanova, M. Glickman, J. Wolchok, 2021, Nature Medicine.

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

J. Casanova, F. Candotti, M. Bosticardo, 2004, Blood.

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

Lluis Quintana-Murci, Patrick Nitschke, Yuval Itan, 2017 .

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

J. Casanova, R. Badolato, R. Fuleihan, 2021, The Journal of Immunology.

A New Patient with Inherited TYK2 Deficiency

J. Casanova, M. Moin, Z. Pourpak, 2019, Journal of Clinical Immunology.

The monogenic basis of human tuberculosis

S. Boisson-Dupuis, 2020, Human Genetics.

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

J. Casanova, L. Quintana-Murci, G. Laval, 2021, American journal of human genetics.

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds

J. Casanova, L. Jeddane, F. Ailal, 2023, Journal of Clinical Immunology.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

J. Casanova, C. Deswarte, L. Abel, 2018, Human molecular genetics.

Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.

J. Casanova, J. Bustamante, S. Boisson-Dupuis, 2023, Current opinion in immunology.

Mendelian susceptibility to mycobacterial disease: an overview

J. Casanova, F. Ailal, L. Abel, 2023, Egyptian Journal of Medical Human Genetics.

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

S. Elledge, D. Chaussabel, J. Casanova, 2018, The Journal of experimental medicine.

Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense

J. Casanova, C. Picard, Shen-Ying Zhang, 2008, Immunological reviews.

Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease

J. Casanova, R. Schreiber, C. Picard, 2006, PLoS genetics.

Inherited IL-12p40 Deficiency

Sami Al-Hajjar, J. Casanova, C. Picard, 2013, Medicine.

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

J. Casanova, A. Chapgier, M. Arola, 2009, The Pediatric infectious disease journal.

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J. Casanova, A. Bousfiha, C. Picard, 2021, The Journal of experimental medicine.

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

J. Casanova, C. Picard, S. Tangye, 2019, Proceedings of the National Academy of Sciences.

Ar Ticle B Cell–intrinsic Signaling through Il-21 Receptor and Stat3 Is Required for Establishing Long-lived Antibody Responses in Humans Engagement of Cytokine Receptors by Specific Ligands Activate Janus Kinase–signal Transducer and Activator of Transcription (stat) Signaling Pathways. the Exact R

Sami Al-Hajjar, J. Casanova, S. Choo, 2022 .

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

J. Casanova, Shen-Ying Zhang, L. Quintana-Murci, 2021, Proceedings of the National Academy of Sciences.

A purely quantitative form of partial recessive IFN‐&ggr;R2 deficiency caused by mutations of the initiation or second codon

J. Casanova, C. Deswarte, L. Abel, 2018, Human molecular genetics.

Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency

J. Casanova, M. Nussenzweig, A. Sette, 2018, Nature Immunology.

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

J. Casanova, C. Picard, E. Jouanguy, 2007 .

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

P. Legrain, F. Colland, P. Cossart, 2005, Nature Cell Biology.

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

P. Legrain, F. Colland, P. Cossart, 2005, Nature cell biology.

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

R. Nussbaum, J. Casanova, M. Gut, 2021, Science immunology.

Human primary immunodeficiencies of type I interferons.

J. Casanova, C. Picard, Shen-Ying Zhang, 2007, Biochimie.

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Carol J. Saunders, J. Casanova, C. Saunders, 2021, The Journal of experimental medicine.

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

J. Casanova, S. Tangye, F. Sallusto, 2023, Science Immunology.

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

J. Casanova, C. Picard, L. Shek, 2015, Journal of Clinical Immunology.

Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

J. Casanova, C. Deswarte, S. Rose-John, 2014, Journal of Clinical Immunology.

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

J. Casanova, S. Tangye, A. Voet, 2016, Journal of Clinical Immunology.

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

J. Casanova, J. Ziegler, A. Bousfiha, 2016, The Journal of experimental medicine.

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

J. Casanova, A. Puel, M. Torres, 2017, Front. Immunol..

Multi-batch cytometry data integration for optimal immunophenotyping

Rui Yang, Ji Eun Han, Masato Ogishi, 2020, bioRxiv.

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

J. Casanova, Joanne M. Smart, C. Picard, 2015, The Journal of experimental medicine.

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

C. Delacourt, J. Casanova, L. Abel, 2015, The Journal of infectious diseases.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Septins Regulate Bacterial Entry into Host Cells

S. Guadagnini, P. Cossart, A. Danckaert, 2009, PloS one.

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

J. Casanova, F. Ailal, C. Deswarte, 2015, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

J. Casanova, A. Bousfiha, S. Ehl, 2022, The Journal of experimental medicine.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

J. Casanova, A. Bousfiha, Shen-Ying Zhang, 2023, The Journal of clinical investigation.

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

J. Casanova, P. V. van Helden, L. Abel, 2018, Journal of Clinical Immunology.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

J. Casanova, M. Nussenzweig, A. Sette, 2018, Nature Immunology.

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

J. Casanova, S. Choo, Joanne M. Smart, 2013, The Journal of allergy and clinical immunology.

Erratum: Human intracellular ISG15 prevents interferon-α±/β 2 over-amplification and auto-inflammation (Nature 517 (2015) (89-93) 10.1038/nature13801))

J. Casanova, L. Notarangelo, Y. Crow, 2015 .

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

Polina, Wong, Seyed, 2016 .

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

D. Chaussabel, A. Munnich, J. Casanova, 2020, Journal of Clinical Immunology.

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

J. Casanova, L. Abel, J. Peter, 2018, Journal of Clinical Immunology.

BCG Lymphadenitis and Recurrent Oral Candidiasis in an Infant with a New Mutation Leading to Interleukin-12 Receptor Beta-1 Deficiency

J. Casanova, S. Boisson-Dupuis, A. Ikinciogullari, 2011 .

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

J. Casanova, C. Deswarte, R. Sherkat, 2018, Journal of Clinical Immunology.

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

J. Casanova, C. Deswarte, S. Boisson-Dupuis, 2017, Pediatrics.

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

Yi Hao Chan, L. Kremer, S. Tangye, 2023, Cell.

Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis

J. Casanova, J. Franco, L. Abel, 2023, Journal of Clinical Immunology.

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

J. Casanova, C. Picard, S. Holland, 2011, Human molecular genetics.

CLINICAL FEATURES OF CANDIDIASIS IN PATIENTS WITH INTERLEUKIN-12 RECEPTOR B1 DEFICIENCY

J. Casanova, C. Picard, L. Abel, 2012 .

The monogenic basis of human tuberculosis

S. Boisson-Dupuis, 2020, Human Genetics.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency

Caroline, Tomi, A. Sette, 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

L. Abel, A. Alcaïs, S. Boisson-Dupuis, 2015, The Journal of infectious diseases.

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

J. Casanova, S. Boisson-Dupuis, J. Feinberg, 2012, Mediterranean journal of hematology and infectious diseases.

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria

A. Teleman, D. Rinchai, Y. Seeleuthner, 2023, Cell.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of Clinical Immunology.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

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

J. Casanova, A. Abhyankar, Shen-Ying Zhang, 2014, BMC Genomics.

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

J. Casanova, Shen-Ying Zhang, L. Quintana-Murci, 2023, Cell genomics.

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

S. Tangye, C. Deswarte, K. Claeys, 2024, Cell.

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

D. Rinchai, S. Bahram, Y. Seeleuthner, 2023, Cell.

Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli

G. Walzl, S. Boisson-Dupuis, A. Cobat, 2024, Research square.

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals

A. Puel, C. Goulvestre, E. Jouanguy, 2024, The Journal of clinical investigation.

Tuberculosis in otherwise healthy adults with inherited TNF deficiency

S. Tangye, B. Boisson, A. Puel, 2024, Nature.

A genome-wide association study of pulmonary tuberculosis in Morocco

C. Deswarte, S. Boisson-Dupuis, M. Orlova, 2016, Human Genetics.