Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Personalized Immunomonitoring Uncovers Molecular Networks that Stratify Lupus Patients

(2016) Romain Banchereau et al.   CELL

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

(2016) Vanja Sisirak et al.   CELL

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

(2016) Davide Tonduti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

(2016) Marije E.C. Meuwissen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

(2016) Petro Starokadomskyy et al.   NATURE IMMUNOLOGY

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

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

ID: 2

(2015) Curdin Conrad et al.   CYTOKINE

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

(2015) Anne-Laure Mathieu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

(2015) Anja Brehm et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

(2014) P. K. Chakraborty et al.   BLOOD

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

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

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

(2014) Sterling C Eckard et al.   NATURE IMMUNOLOGY

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

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

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

(2014) Paulina Navon Elkan 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

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

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

(2012) Gillian I Rice et al.   NATURE GENETICS

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

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

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

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

(2011) Sulaiman M Al-Mayouf et al.   NATURE GENETICS

A Vesicular Stomatitis Virus Replicon-Based Bioassay for the Rapid and Sensitive Determination of Multi-Species Type I Interferon

(2011) Marianne Berger Rentsch et al.   PLoS One

A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial)

(2010) P. Quartier et al.   ANNALS OF THE RHEUMATIC DISEASES

C1q Deficiency Leads to the Defective Suppression of IFN-  in Response to Nucleoprotein Containing Immune Complexes

(2010) D. M. Santer et al.   JOURNAL OF IMMUNOLOGY

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

Elevated serum interferon-α activity in juvenile dermatomyositis: Associations with disease activity at diagnosis and after thirty-six months of therapy

(2009) Timothy B. Niewold et al.   ARTHRITIS AND RHEUMATISM

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

(2009) Marco Henneke et al.   NATURE GENETICS

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Validation of a HeLa Mx2/Luc Reporter Cell Line for the Quantification of Human Type I Interferons

(2009) Young-Jun Seo et al.   PHARMACOLOGY