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

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

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

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

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

Genomic insights into population history and biological adaptation in Oceania

(2021) Jeremy Choin et al.   NATURE

Paths and timings of the peopling of Polynesia inferred from genomic networks

(2021) Alexander G. Ioannidis et al.   NATURE

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

Monogenic susceptibility to live viral vaccines

(2021) Florian Gothe et al.   CURRENT OPINION IN IMMUNOLOGY

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

Mechanisms of viral inflammation and disease in humans

(2021) Jean-Laurent Casanova et al.   SCIENCE

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

(2020) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

Measles epidemic in Samoa and other Pacific islands

(2020) Adam T Craig et al.   LANCET INFECTIOUS DISEASES

Curbing the 2019 Samoa measles outbreak

(2020) David Champredon et al.   LANCET INFECTIOUS DISEASES

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Evolutionary history of modern Samoans

(2020) Daniel N. Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Insights into human genetic variation and population history from 929 diverse genomes

(2020) Anders Bergström et al.   SCIENCE

Native American gene flow into Polynesia predating Easter Island settlement

(2020) Alexander G. Ioannidis et al.   NATURE

Human inborn errors of immunity: An expanding universe

(2020) Luigi D. Notarangelo et al.   Science Immunology

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

(2020) Qian Zhang et al.   SCIENCE

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

(2020) Paul Bastard et al.   SCIENCE

Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity

(2020) Christopher J.A. Duncan et al.   TRENDS IN GENETICS

IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

(2020) Chiara Passarelli et al.   Frontiers in Genetics

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

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

(2019) George S. Amatuni et al.   PEDIATRICS

Human Immunology through the Lens of Evolutionary Genetics

(2019) Lluis Quintana-Murci   CELL

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

(2019) Laura Pöyhönen et al.   JOURNAL OF 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 proline deletion in IFNAR1 impairs IFN-signaling and underlies increased resistance to tuberculosis in humans

(2018) Guoliang Zhang et al.   Nature Communications

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

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

A thrifty variant in CREBRF strongly influences body mass index in Samoans

(2016) Ryan L Minster et al.   NATURE GENETICS

Measles Virus Host Invasion and Pathogenesis

(2016) Brigitta Laksono et al.   Viruses-Basel

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

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

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

Human IFNAR2 deficiency: Lessons for antiviral immunity

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

Prevalence of adiposity and associated cardiometabolic risk factors in the samoan genome-wide association study

(2014) Nicola L. Hawley et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Utilizing Graph Theory to Select the Largest Set of Unrelated Individuals for Genetic Analysis

(2012) Jeffrey Staples et al.   GENETIC EPIDEMIOLOGY

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS