Inherited human IFN-γ deficiency underlies mycobacterial disease

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

(2019) Mahsima Shabani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

(2019) Gaspard Kerner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inherited IL-18BP deficiency in human fulminant viral hepatitis

(2019) Serkan Belkaya et al.   JOURNAL OF EXPERIMENTAL MEDICINE

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

(2019) Jérémie Rosain et al.   JOURNAL OF CLINICAL IMMUNOLOGY

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

(2018) Peng Zhang et al.   BIOINFORMATICS

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

(2018) Ana Esteve-Solé et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

(2018) Jérémie Rosain et al.   IMMUNOLOGY AND CELL BIOLOGY

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

(2018) Sarah Jill de Jong et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2018) Xiao-Fei Kong et al.   NATURE IMMUNOLOGY

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

(2018) Carmen Oleaga-Quintas et al.   HUMAN MOLECULAR GENETICS

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

(2018) Stéphanie Humblet-Baron et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database

(2017) Esther van de Vosse et al.   HUMAN MUTATION

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

(2017) Rodrigo Hoyos-Bachiloglu et al.   JOURNAL OF CLINICAL INVESTIGATION

TSLP or IL-7 provide an IL-7Rα signal that is critical for human B lymphopoiesis

(2016) Terry-Ann M. Milford et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Identification of a major epitope by anti-interferon-γ autoantibodies in patients with mycobacterial disease

(2016) Chia-Hao Lin et al.   NATURE MEDICINE

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

(2015) Stéphanie Boisson-Dupuis et al.   IMMUNOLOGICAL REVIEWS

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

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review

(2014) L. Taramasso et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

(2014) Rubén Martínez-Barricarte et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

(2013) M. Moncada-Velez et al.   BLOOD

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection

(2013) David M. Rose et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

SnIPRE: Selection Inference Using a Poisson Random Effects Model

(2012) Kirsten E. Eilertson et al.   PLoS Computational Biology

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity

(2011) Jérémy Manry et al.   HUMAN MUTATION

Evolutionary genetic dissection of human interferons

(2011) Jérémy Manry et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Carolina Prando et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Treatment of Disseminated Mycobacterial Infection with High-Dose IFN-γin a Patient with IL-12Rβ1 Deficiency

(2010) Abdullah A. Alangari et al.   Clinical & Developmental Immunology

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

(2009) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE