Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

SARS-CoV-2 infections in children: Understanding diverse outcomes

(2022) Petter Brodin   IMMUNITY

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

(2022) Hassan Abolhassani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human genetic and immunological determinants of critical COVID-19 pneumonia

(2022) Qian Zhang et al.   NATURE

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

(2022) Paul Bastard et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

(2022) Christopher J.A. Duncan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2022) Jérémy Manry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons

(2021) Daxing Gao et al.   JOURNAL OF CLINICAL INVESTIGATION

Immune determinants of COVID-19 disease presentation and severity

(2021) Petter Brodin   NATURE MEDICINE

COVID-19 and the human innate immune system

(2021) Joachim L. Schultze et al.   CELL

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

(2021) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4

(2021) Fanny Onodi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

(2021) Paul Bastard et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

(2021) Chiara Fallerini et al.   eLife

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency

(2021) Bishara J. Freij et al.   Frontiers in Immunology

Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway

(2021) Isabelle Meyts et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2

(2021) Paul Bastard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

(2021) Paul Bastard et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Natural mucosal barriers and COVID-19 in children

(2021) Carl A. Pierce et al.   JCI Insight

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

(2021) Justin Taft et al.   CELL

Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β

(2021) Donald C. Vinh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy

(2021) Christopher James Arthur Duncan et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

(2021) Tom Le Voyer et al.   JOURNAL OF IMMUNOLOGY

Pre-activated antiviral innate immunity in the upper airways controls early SARS-CoV-2 infection in children

(2021) J. Loske et al.   NATURE BIOTECHNOLOGY

Key epidemiological drivers and impact of interventions in the 2020 SARS-CoV-2 epidemic in England

(2021) Edward S. Knock et al.   Science Translational Medicine

Case report: hepatitis in a child infected with SARS-CoV-2 presenting toll-like receptor 7 Gln11Leu single nucleotide polymorphism

(2021) Natália Lima Pessoa et al.   Virology Journal

Prevalence of SARS-CoV-2 antibodies in France: results from nationwide serological surveillance

(2021) Stéphane Le Vu et al.   Nature Communications

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

(2021) Xavier Solanich et al.   Frontiers in Immunology

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

(2021) Axel Schmidt et al.   npj Genomic Medicine

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

(2021) Paul Bastard et al.   Science Immunology

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

(2021) Takaki Asano et al.   Science Immunology

Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

(2021) Stefania Mantovani et al.   GENES AND IMMUNITY

A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19

(2021) Shaghayegh Khanmohammadi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

(2021) Hassan Abolhassani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

(2021) Jie Chen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child

(2021) Romain Lévy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms of viral inflammation and disease in humans

(2021) Jean-Laurent Casanova et al.   SCIENCE

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Presence of Genetic Variants Among Young Men With Severe COVID-19

(2020) Caspar I. van der Made et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

(2020) Shiho Nishimura et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

(2020) Paul Bastard et al.   SCIENCE

Immune responses to SARS-CoV-2 infection in hospitalized pediatric and adult patients

(2020) Carl A. Pierce et al.   Science Translational Medicine

Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks

(2020) William M. Schneider et al.   CELL

A novel case of homozygous IFNAR1 deficiency with haemophagocytic lymphohistiocytosis

(2020) Florian Gothe et al.   CLINICAL INFECTIOUS DISEASES

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

(2020) Paul Bastard et al.   JOURNAL OF CLINICAL INVESTIGATION

Tree rings circle an abrupt shift in climate

(2020) Qi-Bin Zhang et al.   SCIENCE

Impaired control of multiple viral infections in a family with complete IRF9 deficiency

(2019) María Bravo García-Morato et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

(2019) Mohammed F. Alosaimi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2019) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A New Patient with Inherited TYK2 Deficiency

(2019) Shokouh Azam Sarrafzadeh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Plasmacytoid dendritic cell and myeloid dendritic cell function in ageing: A comparison between elderly and young adult women

(2019) Marloes van Splunter et al.   PLoS One

Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia

(2018) Michiko Nemoto et al.   Scientific Reports

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

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A novel kindred with inherited STAT2 deficiency and severe viral illness

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

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

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

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

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

(2016) Sebastian Fuchs et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis

(2016) Giuliana Giardino et al.   JOURNAL OF ALLERGY AND CLINICAL 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

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

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

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

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

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

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

The JAK-STAT Pathway at Twenty

(2012) George R. Stark et al.   IMMUNITY

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

(2012) Sara S. Kilic et al.   JOURNAL OF PEDIATRICS

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

(2011) Yiqi Guo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE