List of works - Patrick Revy

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

scientific article

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

scientific article

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

scientific article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

scientific article

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

scientific article published on 7 September 2003

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

scientific article

Retinoids regulate survival and antigen presentation by immature dendritic cells

scientific article

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

scientific article

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

scientific article published on 29 March 2006

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 mu region

scientific article published in September 2003

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

scientific article

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

scientific article published on 28 May 2015

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

scientific article published on December 2007

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

scientific article published on 31 May 2013

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

scientific article published in June 2005

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

scientific article published on 21 March 2013

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

scientific article

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

scientific journal article

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

scientific article

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

scientific article

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

scientific article

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

scientific article published on 3 December 2012

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

scientific article published on 2 February 2016

Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.

scientific article

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

scientific article published on 29 August 2016

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

scientific article

T cell adhesion lowers the threshold for antigen detection

scientific article published on May 2003

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

scientific article

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

scientific article published on 11 November 2016

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

scientific article published on 01 March 1997

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 July 2015

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

scientific article published on 4 April 2013

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

scientific article published on 10 November 2011

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

scientific article published on December 2006

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

scientific article published on January 2004

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

scientific article published on 22 November 2013

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

scientific article published on 01 November 1998

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

scientific article published on 27 April 2011

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

scientific article published on March 2000

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

scientific article published on November 2007

Assessment of dietary zinc requirement of weaned piglets fed diets with or without microbial phytase

scientific article published on 01 February 2006

Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells

scientific article published on 01 July 1999

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

scientific article published on 01 April 2019

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

scientific article published on 18 October 2014

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

scientific article

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

scientific article

List of works by Patrick Revy

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

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

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

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

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

Retinoids regulate survival and antigen presentation by immature dendritic cells

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

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

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 mu region

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

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

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

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

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

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

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

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

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

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

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

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

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

Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.

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

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

T cell adhesion lowers the threshold for antigen detection

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

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

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

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

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

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

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

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

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

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

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

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

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

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

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

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

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

Assessment of dietary zinc requirement of weaned piglets fed diets with or without microbial phytase

Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

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

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