List of works - Xiao-Fei Kong

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

scientific article

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

scientific article

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

scientific article

A partial form of recessive STAT1 deficiency in humans

scientific article

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

scientific article published on 01 February 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.

scientific article published on 14 December 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

scientific article published on 7 June 2012

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

scientific article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

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

scientific article published on 01 December 2018

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

scientific article

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

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

scientific article

Mendelian susceptibility to mycobacterial disease in egyptian children

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 August 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

scientific article

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

scientific article published on 16 December 2013

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

scientific article

The Light at the End of the Tunnel

scientific article published on 02 January 2019

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

scientific article

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

scientific article published on 22 June 2020

List of works by Xiao-Fei Kong

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