Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

(2015) Mi-Ae Jang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

(2015) Frank Rutsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

(2015) Yanick J. Crow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

(2014) Hirotsugu Oda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Masahide Funabiki et al.   IMMUNITY

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

(2014) Gillian I Rice et al.   NATURE GENETICS

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cytosolic Sensing of Viruses

(2013) Delphine Goubau et al.   IMMUNITY

Red and purple papules on the dorsum of fingers and toes in a woman

(2013) Maria Paloma Arribas et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains of 3′-Repair Exonuclease 1

(2012) Kazumitsu Sugiura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2012) Gillian I Rice et al.   NATURE GENETICS

Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis

(2011) G. Chen et al.   International Journal of Immunogenetics

Enhanced skin expression of melanoma differentiation-associated gene 5 (MDA5) in dermatomyositis and related autoimmune diseases

(2011) Sabine Zahn et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1

(2009) C. Günther et al.   DERMATOLOGY

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

(2009) S. Nejentsev et al.   SCIENCE

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

(2008) Athanassios Kolivras et al.   JOURNAL OF CUTANEOUS PATHOLOGY