P. Revy

P. Revy, V. Cottin, E. Bergot, 2015, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

R. Döffinger, J. Casanova, M. Wadhwa, 1998, The Journal of clinical investigation.

TGF-beta 1 prevents the noncognate maturation of human dendritic Langerhans cells.

A. Régnault, P. Revy, F. Geissmann, 1999, Journal of immunology.

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.

M. Newport, J. Casanova, P. Revy, 1996, The New England journal of medicine.

TGF-β1 Prevents the Noncognate Maturation of Human Dendritic Langerhans Cells

A. Régnault, P. Revy, F. Geissmann, 1999, The Journal of Immunology.

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

F. Rieux-Laucat, A. Fischer, F. Deist, 2006, Nature.

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.

Somatic genetic rescue in Mendelian haematopoietic diseases

A. Fischer, P. Revy, C. Kannengiesser, 2019, Nature Reviews Genetics.

Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination.

P. Revy, A. Benachi, F. Cocchiarella, 2013, The Journal of infectious diseases.

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

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

Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

A. Fischer, H. Ochs, P. Revy, 2003, Nature Immunology.

Hyper‐immunoglobulin M syndromes caused by intrinsic B‐lymphocyte defects

A. Fischer, P. Revy, A. Durandy, 2005, Immunological reviews.

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.

Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).

A. Fischer, P. Revy, A. Durandy, 2004, Advances in immunology.

The Block in Immunoglobulin Class Switch Recombination Caused by Activation-Induced Cytidine Deaminase Deficiency Occurs Prior to the Generation of DNA Double Strand Breaks in Switch μ Region 1

A. Fischer, P. Revy, Nadia Catalan, 2003, The Journal of Immunology.

DNA repair and the immune system: From V(D)J recombination to aging lymphocytes

P. Revy, V. Abramowski, C. Azerrad, 2007, European journal of immunology.

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

A. Fischer, T. Morio, P. Revy, 2005, Clinical immunology.

Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect

A. Fischer, P. Revy, A. Durandy, 2003, Current opinion in allergy and clinical immunology.

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

P. Revy, P. Dieudé, A. Cazes, 2019, European Respiratory Journal.

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

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

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

P. Froguel, C. Béroud, A. Bonnefond, 2017, European Respiratory Journal.

Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase

P. Revy, Riham Smoom, Noa Lamm, 2020, Nucleic acids research.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

P. Revy, S. Gazal, P. Nitschké, 2015, European Respiratory Journal.

The C‐terminal extension of human RTEL1, mutated in Hoyeraal‐Hreidarsson syndrome, contains Harmonin‐N‐like domains

P. Revy, Guilhem Faure, I. Callebaut, 2014, Proteins.

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.

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.

Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells

D. Surdez, O. Delattre, M. Tomishima, 2021, Cancer Research.

Imaging T‐cell antigen recognition and comparing immunological and neuronal synapses

A. Trautmann, P. Revy, E. Donnadieu, 2001, Immunology.

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.

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.

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining

P. Revy, V. Abramowski, P. Soulas-Sprauel, 2007, Oncogene.

Interplay between Cernunnos-XLF and Nonhomologous End-joining Proteins at DNA Ends in the Cell*

P. Revy, D. Biard, P. Frit, 2007, Journal of Biological Chemistry.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

P. Revy, B. Grandchamp, V. Cottin, 2016, European Respiratory Journal.

A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia

A. Fischer, M. Busslinger, P. Revy, 2000, Pediatrics.

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.

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.

A. Fischer, A. Plebani, P. Revy, 2003, The Journal of clinical investigation.

Normal CD40‐mediated activation of monocytes and dendritic cells from patients with hyper‐IgM syndrome due to a CD40 pathway defect in B cells

P. Revy, F. Geissmann, A. Durandy, 1998, European journal of immunology.

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.

First heterozygous NOP10 mutation in familial pulmonary fibrosis

P. Revy, C. Oudin, C. Boileau, 2020, European Respiratory Journal.

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.

SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations

F. Bertucci, D. Birnbaum, R. Guérois, 2020, Nature Structural & Molecular Biology.

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.

T cell adhesion lowers the threshold for antigen detection

Fabrice Lemaitre, A. Trautmann, P. Revy, 2003, European journal of immunology.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

N. Boddaert, D. Magen, P. Revy, 2019, Nature Communications.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

Zinc in pig nutrition: the essential trace elementand potential adverse effect on environment.

P. Revy, J. Dourmad, Y. Nys, 2003 .

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.

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.

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.

PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice

A. Cumano, P. Revy, F. Boussin, 2017, Cell Death and Differentiation.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression.

A. Fischer, J. Casanova, C. Schiff, 1997, Journal of immunology.

SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations

F. Bertucci, R. Guérois, P. Revy, 2020, Nature Structural & Molecular Biology.

Functional antigen-independent synapses formed between T cells and dendritic cells

Boris Barbour, B. Barbour, A. Trautmann, 2001, Nature Immunology.

AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

P. Revy, S. Gazal, P. Dieudé, 2017 .

Normal CD40‐mediated activation of monocytes and dendritic cells from patients with hyper‐IgM syndrome due to a CD40 pathway defect in B cells

P. Revy, F. Geissmann, A. Durandy, 1998, European journal of immunology.

Somatic genetic rescue in Mendelian haematopoietic diseases

A. Fischer, P. Revy, C. Kannengiesser, 2019, Nature Reviews Genetics.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2013, The Journal of allergy and clinical immunology.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

P. Revy, I. Callebaut, V. Géli, 2022, Blood.

Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells

P. Chambon, P. Revy, F. Geissmann, 2003, The Journal of experimental medicine.

DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection.

P. Revy, S. Couvé, Laetitia Kermasson, 2024, Biochimica et biophysica acta. Molecular basis of disease.

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.

P. Revy, D. Moshous, J. de Villartay, 2024, Human molecular genetics.

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

P. Revy, A. Kauskot, D. Moshous, 2024, The Journal of clinical investigation.