Lista de obras - Frédéric Rieux-Laucat - Dominio Público Uruguay

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

artículo científico publicado en 2013

A new peak in the ALPS

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

artículo científico publicado en 2011

Accessory spleen: Differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

artículo científico publicado en 2011

Anomalies d’expression du complexe récepteur T de l’antigène/CD3 et déficits immunitaires

artículo científico publicado en 2007

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

artículo científico publicado en 2013

Around the V(D)J recombinase machinery.

artículo científico publicado en 1994

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Autoimmune Lymphoproliferative Syndrome and Perforin

artículo científico publicado en 2005

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.

artículo científico publicado en 2018

Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history.

artículo científico publicado en 2010

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

artículo científico publicado en 2012

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

artículo científico publicado en 2004

Autoimmune lymphoproliferative syndrome: a multifactorial disorder ⬇️

artículo científico publicado el 1 de noviembre de 2010

Autoimmune lymphoproliferative syndromes (ALPS): models for the study of peripheral tolerance.

artículo científico publicado en 2000

CD2-induced apoptosis in activated human peripheral T cells: a Fas-independent pathway that requires early protein tyrosine phosphorylation

artículo científico publicado en 1996

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

article

Cell-death signaling and human disease

artículo científico publicado en 2003

Characterization of antigen-specific repertoire diversity following in vitro restimulation by a recombinant adenovirus expressing human cytomegalovirus pp65.

artículo científico publicado en 2003

Childhood linear IgA disease in association with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2004

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome

artículo científico publicado en 2008

Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity?

artículo científico publicado en 1998

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

artículo científico publicado en 2016

Clinical, immunological, and pathological consequences of Fas-deficient conditions

artículo científico publicado en 1996

Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts

artículo científico publicado en 1999

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

artículo científico publicado en 1997

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

artículo científico publicado en 2008

Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS)

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

artículo científico publicado en 2011

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

artículo científico publicado en 2014

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

artículo científico publicado en 1994

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome

artículo científico publicado en 2016

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

artículo científico publicado en 2017

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

artículo científico publicado en 2012

Differential sensitivity of Jurkat and primary T cells to caspase-independent cell death triggered upon Fas stimulation

artículo científico publicado en 2002

Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2001

Digestive histopathological presentation of IPEX syndrome

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

artículo científico publicado en 2017

Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection

artículo científico publicado en 2021

Dyserythropoiesis associated with a Fas-deficient condition in childhood

artículo científico publicado en 2000

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

artículo científico publicado en 2020

Early-onset hypogammaglobulinemia: A survey of 44 patients

artículo científico publicado en 2015

Efficacy of gene therapy for X-linked severe combined immunodeficiency

artículo científico publicado en 2010

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

artículo científico publicado en 2016

Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

artículo científico publicado en 2015

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Expression of Granzyme B in viral hepatitis in patients with ALPS.

artículo científico publicado en 2004

Expression of the HLA-C2-specific activating killer-cell Ig-like receptor KIR2DS1 on NK and T cells

artículo científico publicado en 2010

FAS and RAS related Apoptosis defects: From autoimmunity to leukemia

artículo científico publicado en 2019

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

artículo científico publicado en 2009

FAS/FAS-L dependent killing of activated human monocytes and macrophages by CD4+CD25- responder T cells, but not CD4+CD25+ regulatory T cells

artículo científico publicado en 2011

Failure of HY-Specific Thymocytes to Escape Negative Selection by Receptor Editing

article

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

artículo científico publicado en 2016

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

artículo científico publicado en 2020

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 1998

Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cells

artículo científico publicado en 2008

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

artículo científico publicado en 2009

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

artículo científico publicado en 2009

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

artículo científico publicado en 2014

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS)

artículo científico publicado en 2020

Immunology. Autoimmunity by haploinsufficiency

artículo científico publicado en 2014

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients

scientific article published on 13 July 2020

In Vitro Evaluation of the Apoptosis Function in Human Activated T Cells

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2002

Induction of T lymphocyte apoptosis by sulphasalazine in patients with Crohn's disease.

artículo científico publicado en 2004

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis

artículo científico publicado en 2018

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

artículo científico publicado en 2014

Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome

artículo científico publicado en 2006

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency

article published in 2006

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

artículo científico publicado en 2017

Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers

artículo científico publicado en 2013

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

artículo científico publicado en 2016

Lack of selective V beta deletion in peripheral CD4+ T cells of human immunodeficiency virus-infected infants

artículo científico publicado en 1993

Le lupus systémique à début pédiatrique : une pathologie polygénique ou monogénique ?

artículo científico publicado en 2012

Le modèle dutwo-hitde Knudson s’applique aux maladies auto-immunes ⬇️

artículo científico publicado el 1 de enero de 2011

Le syndrome lymphoprolifératif avec auto-immunité : un défaut hérité ou acquis d’apoptose lymphocytaire

Live and let die at TEMRA.

artículo científico publicado en 2014

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

artículo científico publicado en 2017

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

artículo científico publicado en 2005

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations

scientific article published on 01 October 1999

MHC-restricted T cell receptor signaling is required for αβ TCR replacement of the pre T cell receptor

artículo científico publicado en 2008

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

artículo científico publicado en 2011

Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2006

Naturally occurring primary deficiencies of the immune system

artículo científico publicado en 1997

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

artículo científico publicado en 1993

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

artículo científico publicado en 2017

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

artículo científico publicado en 2010

Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus

article

PReS-FINAL-2353: Are rasopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus?

artículo científico publicado en 2013

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

artículo científico publicado en 2018

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

artículo científico publicado en 2007

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group

artículo científico publicado en 2013

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

artículo científico publicado en 2012

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

artículo científico publicado en 2014

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

artículo científico publicado en 2010

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

artículo científico publicado en 2010

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

artículo científico publicado en 2009

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

artículo científico publicado en 2016

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

artículo científico publicado en 2007

Significance of Interdigitating Reticulum Cells in Omenn's Syndrome

artículo científico publicado en 1996

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4<sup>+</sup> T cell perturbations

artículo científico publicado en 2021

Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis

artículo científico publicado en 2015

T cell activation deficiencies.

artículo científico publicado en 1995

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions

scholarly article by Frédéric Rieux-Laucat et al published 17 June 2018 in Journal of Clinical Immunology

Type I interferon-mediated autoinflammation due to DNase II deficiency

artículo científico publicado en 2017

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

scientific journal article

What's up in the ALPS.

artículo científico publicado en 2017

Whole-exome-sequencing-based discovery of human FADD deficiency

artículo científico publicado en 2010

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

scientific journal article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

artículo científico publicado en 2006

Lista de obras de Frédéric Rieux-Laucat

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

A new peak in the ALPS

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Accessory spleen: Differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

Anomalies d’expression du complexe récepteur T de l’antigène/CD3 et déficits immunitaires

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

Around the V(D)J recombinase machinery.

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency

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

Autoimmune Lymphoproliferative Syndrome and Perforin

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.

Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history.

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

Autoimmune lymphoproliferative syndrome: a multifactorial disorder ⬇️

Autoimmune lymphoproliferative syndromes (ALPS): models for the study of peripheral tolerance.

CD2-induced apoptosis in activated human peripheral T cells: a Fas-independent pathway that requires early protein tyrosine phosphorylation

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

Cell-death signaling and human disease

Characterization of antigen-specific repertoire diversity following in vitro restimulation by a recombinant adenovirus expressing human cytomegalovirus pp65.

Childhood linear IgA disease in association with autoimmune lymphoproliferative syndrome

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome

Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity?

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Clinical, immunological, and pathological consequences of Fas-deficient conditions

Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts

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

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS)

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Differential sensitivity of Jurkat and primary T cells to caspase-independent cell death triggered upon Fas stimulation

Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome

Digestive histopathological presentation of IPEX syndrome

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection

Dyserythropoiesis associated with a Fas-deficient condition in childhood

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Early-onset hypogammaglobulinemia: A survey of 44 patients

Efficacy of gene therapy for X-linked severe combined immunodeficiency

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

Expression of Granzyme B in viral hepatitis in patients with ALPS.

Expression of the HLA-C2-specific activating killer-cell Ig-like receptor KIR2DS1 on NK and T cells

FAS and RAS related Apoptosis defects: From autoimmunity to leukemia

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

FAS/FAS-L dependent killing of activated human monocytes and macrophages by CD4+CD25- responder T cells, but not CD4+CD25+ regulatory T cells

Failure of HY-Specific Thymocytes to Escape Negative Selection by Receptor Editing

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

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

Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cells

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS)

Immunology. Autoimmunity by haploinsufficiency

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients

In Vitro Evaluation of the Apoptosis Function in Human Activated T Cells

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

Induction of T lymphocyte apoptosis by sulphasalazine in patients with Crohn's disease.

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

Lack of selective V beta deletion in peripheral CD4+ T cells of human immunodeficiency virus-infected infants

Le lupus systémique à début pédiatrique : une pathologie polygénique ou monogénique ?

Le modèle dutwo-hitde Knudson s’applique aux maladies auto-immunes ⬇️

Le syndrome lymphoprolifératif avec auto-immunité : un défaut hérité ou acquis d’apoptose lymphocytaire