Lista de obras -

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

scientific article published on 25 July 2019

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

artículo científico publicado en 2009

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

artículo científico publicado en 2010

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

artículo científico publicado en 2013

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

artículo científico publicado en 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

artículo científico publicado en 2016

Anesthesia Assistance in Screening Colonoscopy and Adenoma Detection Rate Among Trainees

scientific article published on 04 September 2019

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia

article

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

artículo científico publicado en 2012

Mendelian susceptibility to mycobacterial disease in egyptian children

artículo científico publicado en 2012

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

artículo científico publicado en 2012

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

artículo científico publicado en 2014

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

artículo científico publicado en 2013

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

artículo científico publicado en 2010

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

artículo científico publicado en 2009

The Light at the End of the Tunnel

artículo científico publicado en 2019

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

artículo científico publicado en 2020

Lista de obras de

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

A partial form of recessive STAT1 deficiency in humans

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Anesthesia Assistance in Screening Colonoscopy and Adenoma Detection Rate Among Trainees

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

IRF8 mutations and human dendritic-cell immunodeficiency

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Mendelian susceptibility to mycobacterial disease in egyptian children

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

The Light at the End of the Tunnel

The human gene damage index as a gene-level approach to prioritizing exome variants

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia