Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Autoimmune Disorders Associated with Gain of Function of the Intracellular Sensor MDA5

(2014) Masahide Funabiki et al.   IMMUNITY

Identification of an LGP2-associated MDA5 agonist in picornavirus-infected cells

(2014) Safia Deddouche et al.   eLife

Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: A meta-analysis

(2013) Han Cen et al.   AUTOIMMUNITY

Therapies in Aicardi-Goutières syndrome

(2013) Y. J. Crow et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Cytosolic Sensing of Viruses

(2013) Delphine Goubau et al.   IMMUNITY

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

Structural Basis for dsRNA Recognition, Filament Formation, and Antiviral Signal Activation by MDA5

(2012) Bin Wu et al.   CELL

Endogenous retroelements and autoimmune disease

(2012) Daniel B Stetson   CURRENT OPINION IN IMMUNOLOGY

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

Kinetic mechanism for viral dsRNA length discrimination by MDA5 filaments

(2012) A. Peisley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

Ifih1 Gene Dose Effect Reveals MDA5-Mediated Chronic Type I IFN Gene Signature, Viral Resistance, and Accelerated Autoimmunity

(2011) S. P. Crampton et al.   JOURNAL OF IMMUNOLOGY

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition

(2011) A. Peisley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dyschromatosis symmetrica hereditaria associated with neurological disorders

(2010) Taisuke KONDO et al.   JOURNAL OF DERMATOLOGY

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE