Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Structural basis of STAT2 recognition by IRF9 reveals molecular insights into ISGF3 function

(2018) Srinivasan Rengachari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel kindred with inherited STAT2 deficiency and severe viral illness

(2017) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Type I interferon-regulated gene expression and signaling in murine mixed glial cells lacking signal transducers and activators of transcription 1 or 2 or interferon regulatory factor 9

(2017) Wen Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

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

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

(2017) Ian T. Lamborn et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Severe viral respiratory infections in children withIFIH1loss-of-function mutations

(2017) Samira Asgari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

(2017) Maha Zaki et al.   Frontiers in Genetics

GATA2 regulates dendritic cell differentiation

(2016) K. Onodera et al.   BLOOD

Parsing the Interferon Transcriptional Network and Its Disease Associations

(2016) Sara Mostafavi et al.   CELL

Host genetics of severe influenza: from mouse Mx1 to human IRF7

(2016) Michael J Ciancanelli et al.   CURRENT OPINION IN IMMUNOLOGY

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

(2016) Yuval Itan et al.   NATURE METHODS

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

(2016) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

(2016) Charlotte Burns et al.   Journal of Allergy and Clinical Immunology-In Practice

RNAseq expression analysis of resistant and susceptible mice after influenza A virus infection identifies novel genes associated with virus replication and important for host resistance to infection

(2015) Esther Wilk et al.   BMC GENOMICS

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

(2015) Rojeen Shahni et al.   BRAIN

Haematopoietic and immune defects associated withGATA2mutation

(2015) Matthew Collin et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

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

Different STAT Transcription Complexes Drive Early and Delayed Responses to Type I IFNs

(2015) Ali A. Abdul-Sater et al.   JOURNAL OF IMMUNOLOGY

Human genetic basis of interindividual variability in the course of infection

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Severe infectious diseases of childhood as monogenic inborn errors of immunity

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comprehensive serological profiling of human populations using a synthetic human virome

(2015) G. J. Xu et al.   SCIENCE

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Human IFNAR2 deficiency: Lessons for antiviral immunity

(2015) Christopher J. A. Duncan et al.   Science Translational Medicine

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Pathogenesis of influenza-induced acute respiratory distress syndrome

(2013) Kirsty R Short et al.   LANCET INFECTIOUS DISEASES

Structural basis of a unique interferon-β signaling axis mediated via the receptor IFNAR1

(2013) Nicole A de Weerd et al.   NATURE IMMUNOLOGY

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

(2012) M. Pasquet et al.   BLOOD

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

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

The JAK-STAT Pathway at Twenty

(2012) George R. Stark et al.   IMMUNITY

Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

(2012) Kirby D. Johnson et al.   JOURNAL OF CLINICAL INVESTIGATION

STAT1-Independent Control of a Neurotropic Measles Virus Challenge in Primary Neurons and Infected Mice

(2012) L. A. O'Donnell et al.   JOURNAL OF IMMUNOLOGY

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

INTERFEROME v2.0: an updated database of annotated interferon-regulated genes

(2012) Irina Rusinova et al.   NUCLEIC ACIDS RESEARCH

Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease

(2011) Bernadette Begue et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

IRF7: activation, regulation, modification and function

(2011) S Ning et al.   GENES AND IMMUNITY

Plasmacytoid dendritic cells and Toll-like receptor 7-dependent signalling promote efficient protection of mice against highly virulent influenza A virus

(2011) M. M. Kaminski et al.   JOURNAL OF GENERAL VIROLOGY

Children With Asthma Hospitalized With Seasonal or Pandemic Influenza, 2003-2009

(2011) F. S. Dawood et al.   PEDIATRICS

2009 Pandemic Influenza A (H1N1)

(2010) Wun-Ju Shieh et al.   AMERICAN JOURNAL OF PATHOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mouse CD8α+DCs and human BDCA3+DCs are major producers of IFN-λ in response to poly IC

(2010) Henning Lauterbach et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Estimation of the Neutrality Index

(2010) N. Stoletzki et al.   MOLECULAR BIOLOGY AND EVOLUTION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

(2010) David Warde-Farley et al.   NUCLEIC ACIDS RESEARCH

Divergent susceptibilities of human herpesvirus 6 variants to type I interferons

(2010) J. Jaworska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

IFR-9/STAT2 Functional Interaction Drives Retinoic Acid-Induced Gene G Expression Independently of STAT1

(2009) Y.-J. Lou et al.   CANCER RESEARCH

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Pathology of Influenza Virus Infections

(2008) Jeffery K. Taubenberger et al.   Annual Review of Pathology-Mechanisms of Disease

Interferon-λ Contributes to Innate Immunity of Mice against Influenza A Virus but Not against Hepatotropic Viruses

(2008) Markus Mordstein et al.   PLoS Pathogens