B. Boisson

发表

TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO–IKK supramolecular structures

J. Tinevez, A. Israël, M. Mhlanga, 2014, The Journal of cell biology.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

J. Casanova, P. Stenson, D. Cooper, 2018, Front. Immunol..

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Lei Shang, Yuval Itan, Bertrand Boisson, 2014, Proceedings of the National Academy of Sciences.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

J. Casanova, B. Boisson, Lei Shang, 2014, Proceedings of the National Academy of Sciences.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Peter D. Stenson, David N. Cooper, 2018, Proceedings of the National Academy of Sciences.

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

J. Casanova, Shen-Ying Zhang, L. Quintana-Murci, 2020, bioRxiv.

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

J. Casanova, L. Sibley, C. Picard, 2014, eLife.

Clonal conditional mutagenesis in malaria parasites.

S. Thiberge, R. Ménard, C. Lacroix, 2009, Cell host & microbe.

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

J. Casanova, P. Stenson, D. Cooper, 2019, Nucleic acids research.

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

J. Casanova, O. Ohara, M. Hagiwara, 2018, The Journal of clinical investigation.

Gene silencing in mosquito salivary glands by RNAi

B. Boisson, K. Vernick, Jiannong Xu, 2006, FEBS letters.

Catharanthus roseus G-box binding factors 1 and 2 act as repressors of strictosidine synthase gene expression in cell cultures

P. Gantet, B. Boisson, J. Memelink, 2001, Plant Molecular Biology.

Immunodeficiencies at the Interface of Innate and Adaptive Immunity

J. Casanova, C. Picard, Shen-Ying Zhang, 2019, 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.

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

F. Rieux-Laucat, J. Casanova, É. Oksenhendler, 2020, Journal of Clinical Immunology.

Carboxypeptidases B of Anopheles gambiae as Targets for a Plasmodium falciparum Transmission-Blocking Vaccine

S. Thiberge, B. Boisson, R. Lacroix, 2007, Infection and Immunity.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

M. Hernandez, J. Casanova, M. Temsah, 2020, Cell reports.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

J. Casanova, C. Wouters, L. Notarangelo, 2022, Science.

Inherited disorders of TLR, IL-1R, and NFκB immunity

J. Casanova, Shen-Ying Zhang, B. Boisson, 2020 .

An essential role for the Zn2+ transporter ZIP7 in B cell development

J. Casanova, G. Rutter, M. van der Burg, 2019, Nature Immunology.

Disruption of Parasite hmgb2 Gene Attenuates Plasmodium berghei ANKA Pathogenicity

R. Ménard, B. Boisson, M. Soares, 2015, Infection and Immunity.

Isolated congenital asplenia: An overlooked cause of thrombocytosis

J. Casanova, B. Boisson, L. Arcaini, 2022, American journal of hematology.

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

J. Casanova, L. Notarangelo, S. Tangye, 2019, Journal of Clinical Immunology.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

D. Chaussabel, J. Casanova, P. Li, 2018, Science Immunology.

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.

J. Casanova, D. Elliott, T. Capellini, 2012, Developmental cell.

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.

J. Casanova, S. Tangye, B. Boisson, 2013, The Journal of clinical investigation.

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

J. McElwee, J. Casanova, S. Tangye, 2017, The Journal of experimental medicine.

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

Jean-Michel Claverie, Lluis Quintana-Murci, Patrick Nitschke, 2015, Proceedings of the National Academy of Sciences.

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

J. Casanova, R. Lifton, M. Zatz, 2022, The Journal of experimental medicine.

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

P. Gregersen, J. Casanova, L. Rowen, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Mark S. Anderson, J. Casanova, L. Rowen, 2022, Research square.

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

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

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

J. Casanova, C. Picard, B. Boisson, 2015, The Journal of experimental medicine.

Inherited IL-17 RC deficiency in patients with chronic mucocutaneous candidiasis

J. Casanova, C. Picard, B. Boisson, 2015 .

A 44-Year-Old Female With Overwhelming Sepsis.

J. Casanova, S. Seligman, B. Boisson, 2018, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

TLR8 gain of function: a tall surprise.

J. Casanova, B. Boisson, 2021, Blood.

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

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

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

J. Casanova, Y. Hamel, A. Mamoune, 2014, PLoS genetics.

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

J. Casanova, M. Zins, S. Tangye, 2022, The Journal of experimental medicine.

SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience

J. Walter, H. Ochs, T. Torgerson, 2022, Journal of Clinical Immunology.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

Human hyper-IgE syndrome: singular or plural?

J. Casanova, B. Boisson, A. Puel, 2018, Mammalian Genome.

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

J. Casanova, C. Picard, B. Boisson, 2017, Journal of Clinical Immunology.

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

J. Casanova, Likun Du, Q. Pan-Hammarström, 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.

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

J. Casanova, B. Boisson, P. Quartier, 2015, Current opinion in immunology.

Genome-wide detection of human variants that disrupt intronic branchpoints

J. Casanova, P. Stenson, D. Cooper, 2022, bioRxiv.

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

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

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

J. Casanova, C. Picard, B. Boisson, 2013, Immunity.

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

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

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.

Identification of eukaryotic peptide deformylases reveals universality of N‐terminal protein processing mechanisms

A. Serero, B. Boisson, T. Meinnel, 2000, The EMBO journal.

ZIPCO, a putative metal ion transporter, is crucial for Plasmodium liver-stage development

P. Baldacci, S. Thiberge, R. Ménard, 2014, EMBO molecular medicine.

Host cell traversal is important for progression of the malaria parasite through the dermis to the liver.

M. Prevost, S. Thiberge, R. Ménard, 2008, Cell host & microbe.

Serial Analysis of Gene Expression in Plasmodium berghei salivary gland sporozoites

P. Baldacci, R. Ménard, P. Couble, 2007, BMC Genomics.

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.

J. Casanova, Shen-Ying Zhang, B. Boisson, 2020, The Journal of clinical investigation.

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

J. Casanova, L. Notarangelo, S. Tangye, 2019, Journal of Clinical Immunology.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

J. Casanova, L. Notarangelo, C. Picard, 2015, The Journal of experimental medicine.

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

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

LUBAC: A new function in immunity

J. Casanova, B. Boisson, 2014, The Journal of experimental medicine.

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

V. Pascual, D. Chaussabel, J. Casanova, 2012, Nature Immunology.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

J. Casanova, L. Notarangelo, J. Franco, 2018, Blood.

Exome and genome sequencing for inborn errors of immunity.

Xavier Bossuyt, Leen Moens, Isabelle Meyts, 2016, The Journal of allergy and clinical immunology.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Toshiro K. Ohsumi, D. Goldstein, M. Knip, 2015, The New England journal of medicine.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Anason S. Halees, S. Gabriel, A. Clark, 2016, Nature Genetics.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

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

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

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

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

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

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

D. Chaussabel, J. Casanova, L. Notarangelo, 2015, Science.

PAX1 is essential for development and function of the human thymus

T. Myers, J. Casanova, L. Notarangelo, 2020, Science Immunology.

The mutation significance cutoff: gene-level thresholds for variant predictions

Lluis Quintana-Murci, Lei Shang, Yuval Itan, 2016, Nature Methods.

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.

J. Casanova, E. López-Granados, B. Boisson, 2014, The Journal of clinical investigation.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Kam Y. J. Zhang, J. Casanova, O. Ohara, 2021, Nature Immunology.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

David R. Murdock, J. Rosenfeld, B. Lambrecht, 2020, The Journal of experimental medicine.

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

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

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

J. Casanova, C. Cunningham-Rundles, B. Boisson, 2016, Front. Immunol..

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

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

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti

A. Smahi, C. Bodemer, A. Munnich, 2017, The Journal of allergy and clinical immunology.

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

J. Casanova, C. Picard, S. Tangye, 2017, The Journal of clinical investigation.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science 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.

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

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

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

J. Casanova, L. Notarangelo, C. Cunningham-Rundles, 2018, The Journal of clinical investigation.

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

B. Boisson, 2020, Human Genetics.

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

J. Casanova, C. Picard, B. Boisson, 2017, Front. Pediatr..

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

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

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.

Human hyper-IgE syndrome: singular or plural?

J. Casanova, B. Boisson, A. Puel, 2018, Mammalian Genome.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

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.

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

J. Casanova, B. Boisson, B. Bigio, 2021, NAR genomics and bioinformatics.

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing

Benedetta Bigio, Yoann Seeleuthner, Gaspard Kerner, 2020, bioRxiv.

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

J. Casanova, A. Bousfiha, A. Abhyankar, 2016, Proceedings of the National Academy of Sciences.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

L. Notarangelo, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

J. Casanova, S. Boughorbel, S. Tangye, 2019, Science Immunology.

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

Peng Zhang, Yuval Itan, Jean-Laurent Casanova, 2018, bioRxiv.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

A. Fischer, J. Casanova, C. Picard, 2018, Proceedings of the National Academy of Sciences.

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.

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

J. Casanova, G. Giardino, C. Pignata, 2023, The Journal of experimental medicine.

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

J. Casanova, A. Šedivá, Y. Rodina, 2022, Frontiers in Immunology.

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.

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.

Unexpected Protein Families Including Cell Defense Components Feature in the N-Myristoylome of a Higher Eukaryote*

B. Boisson, T. Meinnel, C. Giglione, 2003, Journal of Biological Chemistry.

N-Myristoylation Regulates the SnRK1 Pathway in Arabidopsis[W]

Thierry Meinnel, Carmela Giglione, Bertrand Boisson, 2007, The Plant Cell Online.

A continuous assay of myristoyl-CoA:protein N-myristoyltransferase for proteomic analysis.

B. Boisson, T. Meinnel, 2003, Analytical biochemistry.

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.

J. Casanova, V. Lougaris, A. Plebani, 2021, The Journal of clinical investigation.

Multi-batch cytometry data integration for optimal immunophenotyping

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

Inherited IL-18BP deficiency in human fulminant viral hepatitis

J. Casanova, C. Rice, B. Boisson, 2019, The Journal of experimental medicine.

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

J. Casanova, J. Orange, S. Rosenzweig, 2015, Front. Pediatr..

The novel putative transporter NPT1 plays a critical role in early stages of Plasmodium berghei sexual development

P. Baldacci, R. Ménard, C. Lacroix, 2011, Molecular microbiology.

LISP1 is important for the egress of Plasmodium berghei parasites from liver cells

P. Baldacci, R. Ménard, C. Lacroix, 2009, Cellular microbiology.

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

J. Casanova, H. Kayserili, J. Bernstein, 2021, medRxiv.

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.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Peng Zhang, Franck Rapaport, Yuval Itan, 2018, Bioinform..

The Differential Regulation of Human ACT1 Isoforms by Hsp90 in IL-17 Signaling

J. Casanova, J. Finke, P. Rayman, 2014, The Journal of Immunology.

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.

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

J. Casanova, B. Boisson, S. Sánchez-Ramón, 2016, 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 .

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

J. Casanova, É. Oksenhendler, A. Durandy, 2020, The Journal of pediatrics.

LISP1 is important for the egress of Plasmodium berghei parasites from liver cells

P. Baldacci, R. Ménard, C. Lacroix, 2009, Cellular microbiology.

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

J. Casanova, S. Pittaluga, L. Notarangelo, 2023, Nature communications.

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

J. Casanova, B. Boisson, Á. Lányi, 2021, Journal of Clinical Immunology.

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

B. Boisson, Y. Bertrand, J. Bustamante, 2021, Journal of Clinical Immunology.

cpbAg1 encodes an active carboxypeptidase B expressed in the midgut of Anopheles gambiae

B. Boisson, C. Bourgouin, C. Lavazec, 2005, Insect molecular biology.

An essential role for the Zn2+ transporter ZIP7 in B cell development

J. Casanova, G. Rutter, M. van der Burg, 2019, Nature Immunology.

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

J. Casanova, A. Bousfiha, B. Boisson, 2023, The Journal of experimental medicine.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

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

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

J. Casanova, J. Fellay, P. Stenson, 2018, Proceedings of the National Academy of Sciences.

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

H. Kayserili, B. Boisson, H. Tamary, 2022, Science Immunology.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

J. Casanova, B. Boisson, Lei Shang, 2014, Proceedings of the National Academy of Sciences.

Clonal conditional mutagenesis in malaria parasites.

S. Thiberge, R. Ménard, C. Lacroix, 2009, Cell Host and Microbe.

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

J. Casanova, C. Picard, B. Boisson, 2013, Immunity.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

J. Casanova, Scott B. Dewell, C. Picard, 2010, The Journal of experimental medicine.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

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

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

A microglia clonal inflammatory disorder in Alzheimer’s Disease

N. Socci, B. Boisson, B. Craddock, 2024, bioRxiv.

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

V. Tillmann, P. Soler-Palacín, T. Ozcelik, 2024, The Journal of experimental medicine.

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

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

The mutation significance cutoff: gene-level thresholds for variant predictions

P. Stenson, Shen-Ying Zhang, L. Quintana-Murci, 2016, Nature Methods.

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

B. Boisson, M. Tsumura, D. Bogunovic, 2024, Journal of clinical immunology.

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

K. Dobbs, B. Boisson, J. Toguchida, 2024, Nature immunology.

Genetics and clinical phenotypes in common variable immunodeficiency

B. Boisson, Jean-Laurent Casanova, C. Cunningham-Rundles, 2024, Frontiers in genetics.

Tuberculosis in otherwise healthy adults with inherited TNF deficiency

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

Inherited human RelB deficiency impairs innate and adaptive immunity to infection

S. Tangye, B. Boisson, Y. Itan, 2024, Proceedings of the National Academy of Sciences of the United States of America.