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

Degos Disease

(2011) Cynthia M. Magro et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Nucleic Acid Recognition by the Innate Immune System

(2011) Roman Barbalat et al.   Annual Review of Immunology

Putting the brakes on the anti-viral response: negative regulators of type I interferon (IFN) production

(2011) Kathryn H. Richards et al.   MICROBES AND INFECTION

A diverse range of gene products are effectors of the type I interferon antiviral response

(2011) John W. Schoggins et al.   NATURE

SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx

(2011) Nadine Laguette et al.   NATURE

Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein

(2011) Kasia Hrecka et al.   NATURE

TRAPing a new gene for autoimmunity

(2011) Timothy W Behrens et al.   NATURE GENETICS

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

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

(2010) Charlotte A. Haaxma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Autoinflammatory Disease Reloaded: A Clinical Perspective

(2010) Daniel L. Kastner et al.   CELL

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Abortive HIV Infection Mediates CD4 T Cell Depletion and Inflammation in Human Lymphoid Tissue

(2010) Gilad Doitsh et al.   CELL

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

(2010) Rebecca C. Iskow et al.   CELL

Autoimmunity and the Clearance of Dead Cells

(2010) Shigekazu Nagata et al.   CELL

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Exposing Viruses: RNA Patterns Sensed by RIG-I-like Receptors

(2010) Jan Rehwinkel   JOURNAL OF CLINICAL IMMUNOLOGY

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

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1

(2010) Nan Yan et al.   NATURE IMMUNOLOGY

The enemy within: dormant retroviruses awaken

(2010) Michael E Engel et al.   NATURE MEDICINE

Genetic susceptibility to systemic lupus erythematosus in the genomic era

(2010) Yun Deng et al.   Nature Reviews Rheumatology

Type I interferons: crucial participants in disease amplification in autoimmunity

(2010) John C. Hall et al.   Nature Reviews Rheumatology

Blocking Interleukin-1 in Rheumatic Diseases

(2009) Raphaela Goldbach-Mansky   Annals of the New York Academy of Sciences

Neutralization of interferon-α/β-inducible genes and downstream effect in a phase I trial of an anti-interferon-α monoclonal antibody in systemic lupus erythematosus

(2009) Yihong Yao et al.   ARTHRITIS AND RHEUMATISM

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

Biology and Clinical Significance of Tartrate-Resistant Acid Phosphatases: New Perspectives on an Old Enzyme

(2009) Anthony J. Janckila et al.   CALCIFIED TISSUE INTERNATIONAL

Connections between antiviral defense and autoimmunity

(2009) Daniel B Stetson   CURRENT OPINION IN IMMUNOLOGY

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

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

Ribonuclease H: the enzymes in eukaryotes

(2009) Susana M. Cerritelli et al.   FEBS Journal

Age- and gender-specific modulation of serum osteopontin and interferon-α by osteopontin genotype in systemic lupus erythematosus

(2009) S N Kariuki et al.   GENES AND IMMUNITY

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

Complement in human diseases: Lessons from complement deficiencies

(2009) Marina Botto et al.   MOLECULAR IMMUNOLOGY

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies

(2009) Isaac T. W. Harley et al.   NATURE REVIEWS GENETICS

Tartrate-resistant acid phosphatase (TRAP) and the osteoclast/immune cell dichotomy

(2008) Alison R. Hayman   AUTOIMMUNITY

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

Interferons: Signaling, antiviral and viral evasion

(2008) Cláudio A. Bonjardim et al.   IMMUNOLOGY LETTERS

Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

(2008) Rinki Murphy et al.   Nature clinical practice. Endocrinology & metabolism