Monogenic Lupus: A Developing Paradigm of Disease

Recent developments in systemic lupus erythematosus pathogenesis and applications for therapy

(2018) Mindy S. Lo et al.   CURRENT OPINION IN RHEUMATOLOGY

ADAR RNA editing in human disease; more to it than meets the I

(2017) Angela Gallo et al.   HUMAN GENETICS

De novo mutations implicate novel genes in systemic lupus erythematosus

(2017) Venu Pullabhatla et al.   HUMAN MOLECULAR GENETICS

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions

(2017) Emmanuel Estève et al.   HUMAN PATHOLOGY

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

(2017) Sulaiman M. Al-Mayouf et al.   International Journal of Rheumatic Diseases

Genomics of Systemic Lupus Erythematosus

(2017) Linda T. Hiraki et al.   RHEUMATIC DISEASE CLINICS OF NORTH AMERICA

ISG15: In Sickness and in Health

(2017) Mark Hermann et al.   TRENDS IN IMMUNOLOGY

Type I interferon-mediated autoinflammation due to DNase II deficiency

(2017) Mathieu P. Rodero et al.   Nature Communications

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

(2017) Erkan Demirkaya et al.   Arthritis & Rheumatology

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

(2017) Luciana Martins de Carvalho et al.   Arthritis & Rheumatology

The key culprit in the pathogenesis of systemic lupus erythematosus: Aberrant DNA methylation

(2016) Haijing Wu et al.   AUTOIMMUNITY REVIEWS

Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response

(2016) Karen J Mackenzie et al.   EMBO JOURNAL

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

(2016) Elisabeth Salzer et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Evaluation of polymorphic variants in apoptotic genes and their role in susceptibility and clinical progression to systemic lupus erythematosus

(2016) N Glesse et al.   LUPUS

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

(2016) Jie An et al.   Arthritis & Rheumatology

Effects of ComplementC4Gene Copy Number Variations, Size Dichotomy, andC4ADeficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations

(2016) Ji Yih Chen et al.   Arthritis & Rheumatology

Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway

(2016) Ana Catarina Lunz Macedo et al.   Frontiers in Immunology

Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases

(2016) Katherine E. Lintner et al.   Frontiers in Immunology

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

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

(2015) Jolan E. Walter et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human Disease Phenotypes Associated With Mutations in TREX1

(2015) Gillian I. Rice et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis

(2015) Chandra Mohan et al.   Nature Reviews Nephrology

Systemic Lupus Erythematosus - A Disease with A Dysregulated Type I Interferon System

(2015) N. Hagberg et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

SAMHD1: At the Crossroads of Cell Proliferation, Immune Responses, and Virus Restriction

(2015) Ester Ballana et al.   TRENDS IN MICROBIOLOGY

SAMHD1 prevents autoimmunity by maintaining genome stability

(2014) Stefanie Kretschmer et al.   ANNALS OF THE RHEUMATIC DISEASES

Identification of interferon-inducible genes as diagnostic biomarker for systemic lupus erythematosus

(2014) Xuebing Feng et al.   CLINICAL RHEUMATOLOGY

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

(2014) Masahide Funabiki et al.   IMMUNITY

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

(2014) Claudia Günther et al.   JOURNAL OF CLINICAL INVESTIGATION

Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis

(2014) Takahisa Gono et al.   Modern Rheumatology

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

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

(2014) Jacopo C. DiFrancesco et al.   NEUROLOGICAL SCIENCES

Activated STING in a Vascular and Pulmonary Syndrome

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

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

(2014) Julia I. Ellyard et al.   Arthritis & Rheumatology

DNASE1L3Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

(2013) Z. Birsin Özçakar et al.   ARTHRITIS AND RHEUMATISM

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation

(2013) Alexandre Belot et al.   ARTHRITIS AND RHEUMATISM

SAMHD1-dependent retroviral control and escape in mice

(2013) Jan Rehwinkel et al.   EMBO JOURNAL

Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation

(2013) Peter D. Arkwright et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease

(2013) A. C. Battersby et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Single-stranded nucleic acids promote SAMHD1 complex formation

(2013) Victoria Tüngler et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

(2013) Brigitte Bader-Meunier et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Rare Variants in theTREX1Gene and Susceptibility to Autoimmune Diseases

(2013) Nadia Barizzone et al.   Biomed Research International

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

(2012) Caio R.D.C. Quaio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Overcoming C2 deficiency

(2012) Elizabeth C. Miller et al.   CLINICAL IMMUNOLOGY

Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis

(2012) Nan Xiang et al.   MOLECULAR BIOLOGY REPORTS

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

(2012) Gillian I Rice et al.   NATURE GENETICS

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

Clinical presentations and molecular basis of complement C1r deficiency in a male African–American patient with systemic lupus erythematosus

(2011) YL Wu et al.   LUPUS

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

Importance of Correlation between Gene Expression Levels: Application to the Type I Interferon Signature in Rheumatoid Arthritis

(2011) Frédéric Reynier et al.   PLoS One

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

Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients

(2010) R. Webb et al.   ANNALS OF THE RHEUMATIC DISEASES

TLR9 Regulates TLR7- and MyD88-Dependent Autoantibody Production and Disease in a Murine Model of Lupus

(2010) Kevin M. Nickerson et al.   JOURNAL OF IMMUNOLOGY

Cutaneous manifestations of complement deficiencies

(2010) D. Lipsker et al.   LUPUS

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

(2010) G. M. H. Abdel-Salam et al.   NEUROPEDIATRICS

Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: A case report

(2010) Frank Bienaimé et al.   ARTHRITIS CARE & RESEARCH

C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: A novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

(2009) Christian Lood et al.   ARTHRITIS AND RHEUMATISM

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not

(2009) Aharon Klar et al.   EUROPEAN JOURNAL OF PEDIATRICS

Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus

(2009) B. M. Javierre et al.   GENOME RESEARCH

The complement system in systemic autoimmune disease

(2009) Min Chen et al.   JOURNAL OF AUTOIMMUNITY

SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience

(2009) P. Mehta et al.   RHEUMATOLOGY