J. de Villartay

发表

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.

A. Fischer, W. Kuis, M. Cavazzana‐Calvo, 2002, The New England journal of medicine.

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity

M. van der Burg, L. Notarangelo, J. Walter, 2014, Pediatric Rheumatology.

Gene therapy of severe combined immunodeficiencies

M. Cavazzana‐Calvo, F. Le Deist, J. de Villartay, 2001, The journal of gene medicine.

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

P. Revy, L. Maggiorella, J. Petrini, 2020, Cell reports.

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

P. Revy, C. Lescale, D. Roth, 2016, Nature Communications.

Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

A. Fischer, N. Brousse, M. Cavazzana‐Calvo, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development

J. Charbonnier, I. Callebaut, F. Boussin, 2021, eLife.

Coupling DNA Damage and Repair: an Essential Safeguard during Programmed DNA Double-Strand Breaks?

M. Bétermier, J. de Villartay, V. Borde, 2019, Trends in cell biology.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

A. Fischer, J. Soulier, P. Revy, 2010, Proceedings of the National Academy of Sciences.

Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

P. Revy, C. Bole-Feysot, S. Latour, 2012, Molecular and Cellular Biology.

The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo

A. Fischer, P. Revy, J. Mornon, 2008, Molecular and Cellular Biology.

Cernunnos Interacts with the XRCC4·DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1*

A. Fischer, P. Revy, J. Mornon, 2006, Journal of Biological Chemistry.

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

D. Caillaud, P. Revy, M. O'Donohue, 2020, Human molecular genetics.

CD8 Memory Cells Develop Unique DNA Repair Mechanisms Favoring Productive Division

B. Rocha, J. de Villartay, F. Vasseur, 2015, PloS one.

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

F. Rieux-Laucat, A. Fischer, C. Picard, 2020, The Journal of allergy and clinical immunology.

Around the V(D)J recombinase machinery.

F. Rieux-Laucat, J. de Villartay, A. Fischer, 1994, Research in immunology.

Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients.

A. Fischer, M. Forveille, A. Durandy, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

P. Revy, A. Londoño-Vallejo, J. de Villartay, 2013, Medecine sciences : M/S.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

A. Fischer, J. Soulier, C. Picard, 2013, Human molecular genetics.

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Smita Y. Patel, A. Fischer, C. Picard, 2020, JCI insight.

Human T-cell antigen receptor (TCR) delta-chain locus and elements responsible for its deletion are within the TCR alpha-chain locus.

S. Korsmeyer, R. Hockett, J. de Villartay, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Deletional rearrangement in the human T-cell receptor alpha-chain locus.

T. Waldmann, S. Korsmeyer, R. Hockett, 1987, Proceedings of the National Academy of Sciences of the United States of America.

T early alpha (TEA) regulates initial TCRVAJA rearrangements and leads to TCRJA coincidence

I. Villey, J. de Villartay, L. Mauvieux, 2001, European journal of immunology.

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

A. Fischer, C. Picard, D. Boutboul, 2017, The Journal of experimental medicine.

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

A. Fischer, C. Picard, P. Revy, 2012, The Journal of experimental medicine.

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.

J. Mornon, I. Callebaut, D. Moshous, 2002, Nucleic acids research.

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.

A. Fischer, J. Casanova, C. Picard, 2009, Blood.

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

A. Fischer, J. Soulier, P. Revy, 2012, The Journal of allergy and clinical immunology.

Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited

F. Rieux-Laucat, C. Picard, É. Oksenhendler, 2022, Journal of Clinical Immunology.

Tissue-specific Activity of the γc Chain Gene Promoter Depends upon an Ets Binding Site and Is Regulated by GA-binding Protein*

A. Fischer, F. Deist, J. Ghysdael, 1996, The Journal of Biological Chemistry.

Activation induces apoptosis in Herpesvirus saimiri‐transformed T cells independent of CD95 (Fas, APO‐1)

E. Meinl, B. Fleckenstein, B. Fleischer, 1997, European journal of immunology.

T cell activation deficiencies.

F. Rieux-Laucat, D. Choquet, C. Hivroz, 1995, Clinical immunology and immunopathology.

Primary membrane T cell immunodeficiencies.

C. Griscelli, G. de Saint Basile, N. Cerf-Bensussan, 1991, Clinical immunology and immunopathology.

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

F. Del Bene, J. Concordet, A. Cereseto, 2022, Nature Communications.

TEA regulates local TCR-Jalpha accessibility through histone acetylation.

I. Villey, J. de Villartay, L. Mauvieux, 2003, European journal of immunology.

Gene regulation within the TCR-alpha/delta locus by specific deletion of the TCR-delta cluster.

J. de Villartay, D. Cohen, 1990, Research in immunology.

V(D)J recombination deficiencies.

J. de Villartay, 2009, Advances in experimental medicine and biology.

Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment‐related genotoxicity

N. Mahlaoui, D. Moshous, J. de Villartay, 2022, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Lack of selective Vβ deletion in peripheral CD4+ T cells of human immunodeficiency virus‐infected infants

F. Rieux-Laucat, P. Bahadoran, S. Blanche, 1993, European journal of immunology.

Defect in rearrangement of the most 5' TCR-J alpha following targeted deletion of T early alpha (TEA): implications for TCR alpha locus accessibility.

I. Villey, P. Ferrier, J. de Villartay, 1996, Immunity.

Higher chromosome stability in embryonic neural stem and progenitor cells than in fibroblasts in response to acute or chronic genotoxic stress.

T. Kortulewski, F. Boussin, J. de Villartay, 2020, DNA repair.

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

D. Taruscio, A. Plebani, P. Revy, 2007, European Journal of Medical Genetics.

[Dyskeratosis congenita: short telomeres are not the rule].

P. Revy, J. de Villartay, F. Touzot, 2012, Medecine sciences : M/S.

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

A. Fischer, C. Griscelli, N. Brousse, 1991, The Journal of clinical investigation.

Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency.

M. Cavazzana‐Calvo, D. Papadopoulo, G. de Saint Basile, 1993, The Journal of clinical investigation.

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

A. Fischer, F. Deist, B. Corneo, 2001, Blood.

Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency.

A. Fischer, M. Cavazzana‐Calvo, O. Danos, 2002, Blood.

Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome.

F. Rieux-Laucat, F. Deist, N. Brousse, 1998, The Journal of clinical investigation.

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

A. Fischer, J. Casanova, A. Lemainque, 2005, The Journal of clinical investigation.

Mucosal-associated invariant T cell-rich congenic mouse strain allows functional evaluation.

J. Jaubert, S. Rabot, S. Mondot, 2015, The Journal of clinical investigation.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

A. Fischer, C. Picard, P. Revy, 2013, The Journal of allergy and clinical immunology.

Somatic genetic rescue of a germline ribosome assembly defect

P. Revy, A. Warren, P. Bond, 2021, Nature Communications.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

P. Revy, A. Warren, C. Bole-Feysot, 2019, Blood.

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

U. Pannicke, K. Schwarz, A. Fischer, 2014, Blood.

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

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

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

A. Fischer, J. Soulier, P. Revy, 2016, Blood advances.

DNA replication stress triggers rapid DNA replication fork breakage by Artemis and XPF

S. Queillé, A. L. Pelegrini, J. de Villartay, 2018, PLoS genetics.

Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog

A. Visel, S. Mundlos, M. Vingron, 2017, Nature Genetics.

Translesion DNA synthesis-assisted non-homologous end-joining of complex double-strand breaks prevents loss of DNA sequences in mammalian cells

P. Jeggo, Z. Livneh, S. Covo, 2009, Nucleic acids research.

Demonstration of delta rec-pseudo J alpha rearrangement with deletion of the delta locus in a human stem-cell leukemia

T. Waldmann, C. Begley, I. Kirsch, 1989, The Journal of experimental medicine.

The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

P. Revy, F. Le Deist, J. de Villartay, 2005, Advances in immunology.

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Likun Du, Q. Pan-Hammarström, A. Durandy, 2013, The Journal of experimental medicine.

Deletion of the human T-cell receptor delta-gene by a site-specific recombination.

S. Korsmeyer, R. Hockett, J. de Villartay, 1988, Nature.

CD34‐positive early human thymocytes: T cell receptor and cytokine receptor gene expression

F. Rieux-Laucat, P. Debré, S. Ktorza, 1995, European journal of immunology.

Self‐tolerance to host and donor following HLA‐mismatched bone marrow transplantation

C. Griscelli, J. de Villartay, Alain Fischer, 1986, European journal of immunology.

CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Lymphoproliferative Syndrome With Autoimmunity: A Possible Genetic Basis for Dominant Expression of the Clinical Manifestations

F. Rieux-Laucat, A. Fischer, F. Deist, 2022 .

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

F. Rieux-Laucat, F. Deist, K. Debatin, 1995, Science.

Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID

A. Schambach, A. Fischer, A. Galy, 2019, Molecular therapy. Methods & clinical development.

Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2

S. Orkin, G. Holländer, S. Žuklys, 2021, Nature Communications.

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

A. Fischer, J. Soulier, P. Revy, 2013, Human mutation.

RORγT, a thymus‐specific isoform of the orphan nuclear receptor RORγ / TOR, is up‐regulated by signaling through the pre‐T cell receptor and binds to the TEA promoter

I. Villey, J. de Villartay, R. de Chasseval, 1999, European journal of immunology.

The Metallo-β-Lactamase/β-CASP Domain of Artemis Constitutes the Catalytic Core for V(D)J Recombination

I. Villey, I. Callebaut, D. Moshous, 2004, The Journal of experimental medicine.

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

P. Revy, B. Bardoni, D. Loew, 2015, Nucleic acids research.

Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations

B. Kerem, A. Rahat, S. Yitzchaik, 2009, PloS one.

PROMIDIS&agr;: A T‐cell receptor &agr; signature associated with immunodeficiencies caused by V(D)J recombination defects

A. Fischer, C. Picard, É. Oksenhendler, 2019, The Journal of allergy and clinical immunology.

Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts.

P. Jeggo, F. Rieux-Laucat, A. Fischer, 1999, Cancer research.

Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency.

F. Le Deist, J. de Villartay, A. Fischer, 1993, Immunodeficiency.

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.

Human and animal models of V(D)J recombination deficiency.

I. Villey, G. Le Guyader, J. de Villartay, 2003, Current opinion in immunology.

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

David J. Chen, M. van der Burg, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

A. Fischer, M. Cavazzana‐Calvo, G. de Saint Basile, 2005, Immunological reviews.

Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination

P. Charneau, G. Le Guyader, J. de Villartay, 2007, The Journal of experimental medicine.

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

Yixin Zeng, A. Gennery, Likun Du, 2012, The Journal of experimental medicine.

Structural characterization of filaments formed by human Xrcc4–Cernunnos/XLF complex involved in nonhomologous DNA end-joining

R. Guérois, P. Revy, E. Le Cam, 2011, Proceedings of the National Academy of Sciences.

A Founder Mutation in Artemis, an SNM1-Like Protein, Causes SCID in Athabascan-Speaking Native Americans1

E. Salido, Yungui Zhou, D. Moshous, 2002, The Journal of Immunology.

Interplay between Ku, Artemis, and the DNA-dependent Protein Kinase Catalytic Subunit at DNA Ends*

C. Delteil, P. Frit, P. Calsou, 2006, Journal of Biological Chemistry.

Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin.

S. Soubeyrand, R. Haché, D. Gosselin, 2006, Journal of molecular biology.

Phosphorylation of Artemis following irradiation‐induced DNA damage

A. Fischer, S. Soubeyrand, D. Moshous, 2004, European journal of immunology.

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.

A. Fischer, N. Jabado, L. Li, 2000, Human molecular genetics.

A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency

A. Fischer, M. Cavazzana‐Calvo, D. Papadopoulo, 1998, The Journal of experimental medicine.

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

J. Benítez, P. Revy, R. Perona, 2017, Human molecular genetics.

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.

M. van der Burg, J. V. van Dongen, B. Wolska-Kuśnierz, 2010, DNA repair.

Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation

F. Rieux-Laucat, A. Fischer, M. Cavazzana‐Calvo, 1997, European journal of immunology.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

M. van der Burg, E. Mejstrikova, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

Artemis sheds new light on V(D)J recombination

A. Fischer, D. Moshous, F. Le Deist, 2004, Immunological reviews.

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.

A. Fischer, J. Ziegler, Joanne M. Smart, 2020, The Journal of clinical investigation.

Diagnosis of Fanconi anemia in patients with bone marrow failure

J. Soulier, A. Baruchel, D. Stoppa-Lyonnet, 2009, Haematologica.

HLA-haploidentical bone marrow transplantation for severe combined immunodeficiency using E rosette fractionation and cyclosporine.

C. Griscelli, A. Durandy, F. Le Deist, 1986, Blood.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

A. Fischer, J. Soulier, C. Picard, 2015, The Journal of allergy and clinical immunology.

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

P. Palma, C. Cancrini, A. Bruselles, 2022, Frontiers in Immunology.

Normal T cell receptor Vβ usage in a primary immunodeficiency associated with HLA class II deficiency

F. Rieux-Laucat, J. de Villartay, F. Selz, 1993 .

Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

P. Revy, M. O'Donohue, P. Gleizes, 2019, EMBO molecular medicine.

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

J. Soulier, P. Revy, I. Callebaut, 2016, The Journal of experimental medicine.

HLA antigens on peripheral red blood cells: analysis by flow cytofluorometry using monoclonal antibodies.

P. Rouger, J. de Villartay, J. Muller, 2008, Tissue antigens.

Three-dimensional Clustering of Human RAG2 Gene Mutations in Severe Combined Immune Deficiency*

B. Corneo, I. Callebaut, D. Moshous, 2000, The Journal of Biological Chemistry.

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.

C. Picard, A. Sachdeva, J. de Villartay, 2014, Hematology/oncology and stem cell therapy.

[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency].

A. Fischer, J. Déchanet, A. Lim, 2006, Medecine sciences : M/S.

Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity.

F. Rieux-Laucat, A. Fischer, M. Cavazzana‐Calvo, 2006, Blood.

V(D)J recombination and DNA repair: lessons from human immune deficiencies and other animal models

J. de Villartay, 2002, Current opinion in allergy and clinical immunology.

Expanding the SRI domain family: A common scaffold for binding the phosphorylated C‐terminal domain of RNA polymerase II

P. Revy, Guilhem Faure, I. Callebaut, 2014, FEBS letters.

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

J. Casanova, K. Ansarin, J. de Villartay, 2009, Italian journal of pediatrics.

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

A. Fischer, Likun Du, Q. Pan-Hammarström, 2007, The Journal of experimental medicine.

Delineation of the Xrcc4-interacting Region in the Globular Head Domain of Cernunnos/XLF*

R. Guérois, P. Revy, J. Mornon, 2010, The Journal of Biological Chemistry.

Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice

J. de Villartay, J. Chaumeil, V. Abramowski, 2019, Front. Immunol..

T cell receptor delta gene rearrangement and T early alpha (TEA) expression in immature alpha beta lineage thymocytes: implications for alpha beta/gamma delta lineage commitment.

H. Macdonald, J. de Villartay, A. Wilson, 1996, Immunity.

TEA regulates local TCR‐Jα accessibility through histone acetylation

I. Villey, J. de Villartay, L. Mauvieux, 2003 .

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

A. Fischer, G. Almouzni, G. de Saint Basile, 2018, Cell Discovery.

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

J. Soulier, P. Revy, N. Jabado, 2017, Oncotarget.

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

A. Verloes, T. Leblanc, M. Doco‐Fenzy, 2017, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

M. van der Burg, Likun Du, Q. Pan-Hammarström, 2018, The Journal of allergy and clinical immunology.

Two SCID cases with Cernunnos‐XLF deficiency successfully treated by hematopoietic stem cell transplantation

M. van der Burg, P. Revy, I. Tezcan, 2012, Pediatric transplantation.

Distinct effects of DNA-PKcs and Artemis inactivation on signal joint formation in vivo.

M. Jasin, S. Candéias, P. Marche, 2008, Molecular immunology.

Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases λ and μ for nonhomologous end joining in human whole-cell extracts

David J. Chen, P. Revy, K. Valerie, 2009, Nucleic acids research.

A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.

M. Lieber, A. Fischer, J. Mornon, 2009, DNA Repair.

An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system

J. de Villartay, V. Abramowski, Benoit Roch, 2020, The Journal of Biological Chemistry.

Reduced immunoglobulin class switch recombination in the absence of Artemis.

A. Fischer, G. Le Guyader, F. Pâques, 2009, Blood.

Congenital defects in V(D)J recombination.

J. de Villartay, 2015, British medical bulletin.

Lack of detectable defect in DNA double‐strand break repair and DNA‐dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

S. Jackson, M. Cavazzana‐Calvo, D. Papadopoulo, 1996, European journal of immunology.

Germ‐line transcription and methylation status of the TCR‐Jα locus in its accessible configuration

P. Quartier, J. de Villartay, F. Selz, 1997, European journal of immunology.

Coronin 1 Regulates Cognition and Behavior through Modulation of cAMP/Protein Kinase A Signaling

Y. Humeau, A. Lüthi, C. Genoud, 2014, PLoS biology.

Late‐onset combined immune deficiency due to LIGIV mutations in a 12‐year‐old patient

C. Cancrini, A. Antoccia, M. Chiriacò, 2017, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing

J. de Villartay, 2015, EMBO molecular medicine.

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.

W. Vainchenker, J. Villeval, J. de Villartay, 2008, Blood.

Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.

I. Tezcan, J. de Villartay, D. Ayvaz, 2013, Molecular immunology.

Passera ou ne passera pas—accessibility is key

J. de Villartay, 2006, Nature immunology.

Brief Report: T-Cell Receptor α Repertoire Diversity at Birth After in utero Exposure to HIV Integrase Strand-Transfer Inhibitors

R. Tubiana, P. Frange, S. Blanche, 2022, Journal of acquired immune deficiency syndromes.

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.

F. Le Deist, J. de Villartay, A. Fischer, 1993, Nature genetics.