Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

(2017) Insa Buers et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

(2016) Kevin Yarbrough et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children

(2016) Marie-Louise Frémond et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

(2015) A.-C. Bursztejn et al.   BRITISH JOURNAL OF DERMATOLOGY

Brief Report:IFIH1Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

(2015) Lien Van Eyck et al.   Arthritis & Rheumatology

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

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

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

(2014) Nadia Jeremiah et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

(2014) Maha Zaki et al.   NEUROPEDIATRICS

Activated STING in a Vascular and Pulmonary Syndrome

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

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

(2013) Annette Feigenbaum et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Jaccoud’s arthropathy: proper classification criteria and treatment are still needed

(2012) Mittermayer B. Santiago   RHEUMATOLOGY INTERNATIONAL

Jaccoud’s arthropathy

(2011) Mittermayer B. Santiago   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

(2011) B. Xin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

(2010) Russell C. Dale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

Mediation of nonerosive arthritis in a mouse model of lupus by interferon-α-stimulated monocyte differentiation that is nonpermissive of osteoclastogenesis

(2010) Kofi A. Mensah et al.   ARTHRITIS AND RHEUMATISM

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

(2010) Amy Strange et al.   NATURE GENETICS

Monocyte surface expression of Fcγ receptor RI (CD64), a biomarker reflecting type-I interferon levels in systemic lupus erythematosus

(2010) Yi Li et al.   ARTHRITIS RESEARCH & THERAPY

Spontaneous tendon rupture in systemic lupus erythematosus: association with Jaccoud’s arthropathy

(2009) EM Alves et al.   LUPUS