Lista de obras - Isabelle Meyts - Dominio Público Uruguay

A human inborn error connects the α's

artículo científico publicado en 2016

A novel kindred with inherited STAT2 deficiency and severe viral illness

artículo científico publicado en 2017

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

scientific article published on 01 June 2018

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

artículo científico publicado en 2016

Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

artículo científico publicado en 2014

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

artículo científico publicado en 2018

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

artículo científico publicado en 2018

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

article

Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections

scientific article published on 08 November 2019

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

artículo científico publicado en 2012

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

artículo científico publicado en 2020

Hematopoietic Stem Cell Transplantation in CARD9 Deficiency: Knight in Shining Armor?

scientific article published on 19 June 2019

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

scientific article published on 22 September 2020

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

artículo científico publicado en 2019

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP

scientific article published on 08 March 2019

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

artículo científico publicado en 2014

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

scientific article published on 24 September 2020

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

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

article published in the Proceedings of the National Academy of Sciences of the United States of America

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

artículo científico publicado en 2019

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

Lessons learned from the study of human inborn errors of innate immunity

scientific article published on 01 August 2018

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

artículo científico publicado en 2017

Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1-Triggered Erythema Multiforme

artículo científico publicado en 2020

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

scientific article published on 19 March 2020

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

artículo científico publicado en 2020

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

artículo científico publicado en 2024

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

artículo científico publicado en 2022

Warts and DADA2: a Mere Coincidence?

artículo científico publicado en 2018

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.

artículo científico publicado en 2017

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

artículo científico publicado en 2010

Lista de obras de Isabelle Meyts

A human inborn error connects the α's

A novel kindred with inherited STAT2 deficiency and severe viral illness

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

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

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

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

Hematopoietic Stem Cell Transplantation in CARD9 Deficiency: Knight in Shining Armor?

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

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

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

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

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

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

Inherited p40phox deficiency differs from classic chronic granulomatous disease

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

Lessons learned from the study of human inborn errors of innate immunity

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1-Triggered Erythema Multiforme

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

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

Warts and DADA2: a Mere Coincidence?

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease