Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386* variant by tri-allelic genotyping

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

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

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

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

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

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

(2020) Qian Zhang et al.   SCIENCE

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

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

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

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country

(2018) Gesmar R. S. Segundo et al.   Frontiers in Immunology

The Use of Degenerate Primers in qPCR Analysis of Functional Genes Can Cause Dramatic Quantification Bias as Revealed by Investigation of nifH Primer Performance

(2017) John Christian Gaby et al.   MICROBIAL ECOLOGY

Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report

(2016) Nora King et al.   BMC Pediatrics

Human IFNAR2 deficiency: Lessons for antiviral immunity

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

Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots

(2013) C. A. Saavedra-Matiz et al.   CLINICAL CHEMISTRY

Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source

(2011) Mads V Hollegaard et al.   BMC GENETICS