Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus

(2018) S. Zoghi et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

Alpha-Mannosidosis: Therapeutic Strategies

(2018) Maria Ceccarini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation

(2018) Anna E. Smyth et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Monogenic systemic lupus erythematosus: insights in pathophysiology

(2018) Ezgi Deniz Batu   RHEUMATOLOGY INTERNATIONAL

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

(2018) Lisa R. Forbes et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation

(2018) Marc Eissing et al.   Translational Oncology

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

Differences in clinical features observed between childhood-onset versus adult-onset systemic lupus erythematosus

(2017) Pravesh Kumar Bundhun et al.   MEDICINE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

Alterations in nuclear structure promote lupus autoimmunity in a mouse model

(2016) Namrata Singh et al.   Disease Models & Mechanisms

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

(2016) Michel J. Massaad et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

(2016) Asaf Vivante et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Nonoverlapping roles of PD-1 and FoxP3 in maintaining immune tolerance in a novel autoimmune pancreatitis mouse model

(2016) Baihao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Monogenic Lupus

(2016) Mindy S. Lo   Current Rheumatology Reports

C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus

(2016) Rosanne A. van Schaarenburg 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

Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections

(2015) Rosanne A. van Schaarenburg et al.   IMMUNOBIOLOGY

Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation

(2015) Muneyoshi Tanimura et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

PTEN/Akt-p27kip1Signaling Promote the BM-MSCs Senescence and Apoptosis in SLE Patients

(2015) Wei Tan et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

(2015) Ayca Kiykim et al.   JOURNAL OF 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

Classical pathway deficiencies – A short analytical review

(2015) Lennart Truedsson   MOLECULAR IMMUNOLOGY

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

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

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

Defective PTEN regulation contributes to B cell hyperresponsiveness in systemic lupus erythematosus

(2014) X.-n. Wu et al.   Science Translational Medicine

Mutation of POLB Causes Lupus in Mice

(2014) Alireza G. Senejani et al.   Cell Reports

An ENU Mutagenesis-Derived Mouse Model with a Dominant Jak1 Mutation Resembling Phenotypes of Systemic Autoimmune Disease

(2013) Sibylle Sabrautzki et al.   AMERICAN JOURNAL OF PATHOLOGY

Increased Ribonuclease Expression Reduces Inflammation and Prolongs Survival in TLR7 Transgenic Mice

(2013) X. Sun et al.   JOURNAL OF IMMUNOLOGY

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

BALB/c-Fcgr2b−/−Pdcd1−/− mouse expressing anti-urothelial antibody is a novel model of autoimmune cystitis

(2012) Yoshio Sugino et al.   Scientific Reports

Murine Models of Systemic Lupus Erythematosus

(2011) Daniel Perry et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations

(2011) Georgia Ramantani et al.   JOURNAL OF CHILD NEUROLOGY

Tolerogenic function of Blimp-1 in dendritic cells

(2011) Sun Jung Kim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Systemic Lupus Erythematosus

(2011) George C. Tsokos   NEW ENGLAND JOURNAL OF MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Atopic Dermatitis-Like Skin Disease with Hyper-IgE-emia Develops in Mice Carrying a Spontaneous Recessive Point Mutation in the Traf3ip2 (Act1/CIKS) Gene

(2010) Y. Matsushima et al.   JOURNAL OF IMMUNOLOGY

Autoimmune Kidney Disease and Impaired Engulfment of Apoptotic Cells in Mice with Macrophage Peroxisome Proliferator-Activated Receptor   or Retinoid X Receptor   Deficiency

(2010) T. Roszer et al.   JOURNAL OF IMMUNOLOGY

Basophils and the T helper 2 environment can promote the development of lupus nephritis

(2010) Nicolas Charles et al.   NATURE MEDICINE

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

PTPN22 Deficiency Cooperates with the CD45 E613R Allele to Break Tolerance on a Non-Autoimmune Background

(2009) J. Zikherman et al.   JOURNAL OF IMMUNOLOGY

Epidermal loss of JunB leads to a SLE phenotype due to hyper IL-6 signaling

(2009) P. Pflegerl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chronic granulomatous disease as a risk factor for autoimmune disease

(2008) Suk See De Ravin et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inactivation of NuRD Component Mta2 Causes Abnormal T Cell Activation and Lupus-like Autoimmune Disease in Mice

(2008) Xiangdong Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene

(2007) Mariane T. Amano et al.   MOLECULAR IMMUNOLOGY