Primary immunodeficiencies in cytosolic pattern‐recognition receptor pathways: Toward host‐directed treatment strategies

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Moving towards a systems-based classification of innate immune-mediated diseases

(2020) Sinisa Savic et al.   Nature Reviews Rheumatology

Ropeginterferon alfa-2b versus standard therapy for polycythaemia vera (PROUD-PV and CONTINUATION-PV): a randomised, non-inferiority, phase 3 trial and its extension study

(2020) Heinz Gisslinger et al.   Lancet Haematology

Self-Awareness: Nucleic Acid–Driven Inflammation and the Type I Interferonopathies

(2019) Carolina Uggenti et al.   Annual Review of Immunology

Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4

(2019) Adriana A. de Jesus et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dysregulated TRAF3 and BCL2 Expression Promotes Multiple Classes of Mature Non-hodgkin B Cell Lymphoma in Mice

(2019) Gema Perez-Chacon et al.   Frontiers in Immunology

NOD-like receptors and inflammasomes: A review of their canonical and non-canonical signaling pathways

(2019) Jaye M. Platnich et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

(2019) M. Boyadzhiev et al.   Pediatric Rheumatology

An update on Peginterferon beta-1a Management in Multiple Sclerosis: results from an interdisciplinary Board of German and Austrian Neurologists and dermatologists

(2019) Annette Kolb-Mäurer et al.   BMC Neurology

Interleukin-18 in pediatric rheumatic diseases

(2019) Giusi Prencipe et al.   CURRENT OPINION IN RHEUMATOLOGY

Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy

(2019) Helka Göös et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DNA sensing by the cGAS–STING pathway in health and disease

(2019) Mona Motwani et al.   NATURE REVIEWS GENETICS

Development of latent Interferon alpha 2b as a safe therapeutic for treatment of Hepatitis C virus infection

(2019) Iram Gull et al.   Scientific Reports

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

(2019) Peer Arts et al.   Genome Medicine

Canakinumab provides rapid and sustained long‐term efficacy and safety in patients with cryopyrin‐associated periodic syndrome aged ≤5 years

(2019) Paul A Brogan et al.   Arthritis & Rheumatology

Cutaneous lupus erythematosus: new insights into pathogenesis and therapeutic strategies

(2019) Joerg Wenzel   Nature Reviews Rheumatology

Toll-like receptor 3 deficiency in autoimmune encephalitis post–herpes simplex encephalitis

(2019) Thaís Armangue et al.   Neurology-Neuroimmunology & Neuroinflammation

Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome

(2019) Mark Kacar et al.   RHEUMATOLOGY

A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

(2019) Chai Teng Chear et al.   CLINICAL IMMUNOLOGY

Regulatory genome variants in human susceptibility to infection

(2019) Amalio Telenti et al.   HUMAN GENETICS

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

(2019) Adriana A. de Jesus et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

(2019) Najoua Lalaoui et al.   NATURE

Ruxolitinib as first-line treatment in secondary hemophagocytic lymphohistiocytosis: A second experience

(2018) Inuk Zandvakili et al.   AMERICAN JOURNAL OF HEMATOLOGY

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

(2018) M. Cecilia Poli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown

(2018) Hachung Chung et al.   CELL

Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation

(2018) Sadeem Ahmad et al.   CELL

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

(2018) Lyse Ruaud et al.   HUMAN MUTATION

Short-term efficacy of adalimumab in a patient with pyrin-associated autoinflammation with neutrophilic dermatosis

(2018) Vanessa Gargallo et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)–LRR oligomerization interface

(2018) Fiona Moghaddas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

(2018) Gina A. Montealegre Sanchez et al.   JOURNAL OF CLINICAL INVESTIGATION

Development of a Validated Interferon Score Using NanoString Technology

(2018) Hanna Kim et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Mechanisms of NLRP1-Mediated Autoinflammatory Disease in Humans and Mice

(2018) Chien-Hsiung Yu et al.   JOURNAL OF MOLECULAR BIOLOGY

Targeting the NLRP3 inflammasome in inflammatory diseases

(2018) Matthew S. J. Mangan et al.   NATURE REVIEWS DRUG DISCOVERY

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

(2018) Fabrizio De Benedetti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders

(2018) Mikhail M. Kostik et al.   RHEUMATOLOGY INTERNATIONAL

C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review

(2018) Özge Başaran et al.   RHEUMATOLOGY INTERNATIONAL

BiallelicRIPK1mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature

(2018) Changhoon Oh et al.   Scientific Reports

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

(2018) Hiroyasu Konno et al.   Cell Reports

An Update on Autoinflammatory Diseases: Relopathies

(2018) Annemarie Steiner et al.   Current Rheumatology Reports

Detection of Microbial Infections Through Innate Immune Sensing of Nucleic Acids

(2018) Xiaojun Tan et al.   Annual Review of Microbiology

Lessons learned from the study of human inborn errors of innate immunity

(2018) Giorgia Bucciol et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Balancing Act: MDA5 in Antiviral Immunity and Autoinflammation

(2018) Antonio Gregorio Dias Junior et al.   TRENDS IN MICROBIOLOGY

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

(2018) Julia Pazmandi et al.   IMMUNOLOGICAL REVIEWS

DDX58 and Classic Singleton-Merten Syndrome

(2018) Carlos R. Ferreira et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

(2018) Gillian I. Rice et al.   NEW ENGLAND JOURNAL OF MEDICINE

HDX-MS reveals dysregulated checkpoints that compromise discrimination against self RNA during RIG-I mediated autoimmunity

(2018) Jie Zheng et al.   Nature Communications

967. Inhibition of Host Neuraminidase Increases Susceptibility to Invasive Pulmonary Aspergillosis

(2018) Frank Van De Veerdonk et al.   Open Forum Infectious Diseases

TLRs/NLRs: Shaping the landscape of host immunity

(2017) Komal Dolasia et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition

(2017) Scott W. Canna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

(2017) Benson Ogunjimi et al.   JOURNAL OF CLINICAL INVESTIGATION

HumanRELAhaploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

(2017) Yousef R. Badran et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

(2017) Ian T. Lamborn et al.   JOURNAL OF EXPERIMENTAL MEDICINE

NEMO–IKKβ Are Essential for IRF3 and NF-κB Activation in the cGAS–STING Pathway

(2017) Run Fang et al.   JOURNAL OF IMMUNOLOGY

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs

(2017) Martin Achleitner et al.   JOURNAL OF IMMUNOLOGY

Current role of the NLRP3 inflammasome on obesity and insulin resistance: A systematic review

(2017) Jakeline Rheinheimer et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

JAK inhibition as a therapeutic strategy for immune and inflammatory diseases

(2017) Daniella M. Schwartz et al.   NATURE REVIEWS DRUG DISCOVERY

Antiinflammatory Therapy with Canakinumab for Atherosclerotic Disease

(2017) Paul M Ridker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Severe viral respiratory infections in children withIFIH1loss-of-function mutations

(2017) Samira Asgari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type I interferon-mediated autoinflammation due to DNase II deficiency

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

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

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

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

(2017) Antonio Torrelo   Frontiers in Immunology

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD ( NLRP1- associated autoinflammation with arthritis and dyskeratosis)

(2016) Sylvie Grandemange et al.   ANNALS OF THE RHEUMATIC DISEASES

Familial chilblain lupus due to a gain-of-function mutation in STING

(2016) Nadja König et al.   ANNALS OF THE RHEUMATIC DISEASES

Genomics of Immune Diseases and New Therapies

(2016) Michael Lenardo et al.   Annual Review of Immunology

SAMHD1, the Aicardi-Goutières syndrome gene and retroviral restriction factor, is a phosphorolytic ribonuclease rather than a hydrolytic ribonuclease

(2016) Jeongmin Ryoo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

(2016) Franklin L. Zhong et al.   CELL

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans

(2016) Yang Li et al.   CELL

NLRP12 autoinflammatory disease: a Chinese case series and literature review

(2016) Min Shen et al.   CLINICAL RHEUMATOLOGY

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

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts 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

Regulation and function of the cGAS–STING pathway of cytosolic DNA sensing

(2016) Qi Chen et al.   NATURE IMMUNOLOGY

New insights into the immunopathogenesis of systemic lupus erythematosus

(2016) George C. Tsokos et al.   Nature Reviews Rheumatology

Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes

(2016) Torbjörn Kullenberg et al.   RHEUMATOLOGY

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

(2016) Seth L. Masters et al.   Science Translational Medicine

Inhibiting the immunoproteasome exacerbates the pathogenesis of systemic Candida albicans infection in mice

(2016) Sarah Mundt et al.   Scientific Reports

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

Innate Immune Pattern Recognition: A Cell Biological Perspective

(2015) Sky W. Brubaker et al.   Annual Review of Immunology

The Inflammasomes and Autoinflammatory Syndromes

(2015) Lori Broderick et al.   Annual Review of Pathology-Mechanisms of Disease

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

STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease

(2015) Nicole Dobbs et al.   Cell Host & Microbe

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

(2015) Bertrand Boisson et al.   CURRENT OPINION IN IMMUNOLOGY

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

(2015) Heleen D. de Koning 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

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

(2015) Bertrand Boisson et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Functional IRF3 deficiency in a patient with herpes simplex encephalitis

(2015) Line Lykke Andersen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

MDA5 plays a critical role in interferon response during hepatitis C virus infection

(2015) Xuezhi Cao et al.   JOURNAL OF HEPATOLOGY

Inflammasomes: mechanism of action, role in disease and therapeutics

(2015) Haitao Guo et al.   NATURE MEDICINE

Use of TNF inhibitors in the treatment of PAPA syndrome

(2015) D Stone et al.   Pediatric Rheumatology

Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE)

(2015) G Montealegre et al.   Pediatric Rheumatology

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation

(2015) S. Liu et al.   SCIENCE

Systematic review and meta-analysis of serious infections with tofacitinib and biologic disease-modifying antirheumatic drug treatment in rheumatoid arthritis clinical trials

(2015) Vibeke Strand et al.   ARTHRITIS RESEARCH & THERAPY

NLRP3Inflammasome Polymorphism and Macrovascular Complications in Type 2 Diabetes Patients

(2015) Jasna Klen et al.   Journal of Diabetes Research

Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

(2015) Justine Munoz et al.   JAMA Dermatology

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

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

IL-1 Blockade in Autoinflammatory Syndromes

(2014) Adriana A. Jesus et al.   Annual Review of Medicine

Apoptotic Caspases Prevent the Induction of Type I Interferons by Mitochondrial DNA

(2014) Anthony Rongvaux et al.   CELL

Mechanisms and Functions of Inflammasomes

(2014) Mohamed Lamkanfi et al.   CELL

Self-DNA, STING-dependent signaling and the origins of autoinflammatory disease

(2014) Jeonghyun Ahn et al.   CURRENT OPINION IN IMMUNOLOGY

Cellular and molecular mechanisms underlying NOD2 risk-associated polymorphisms in Crohn's disease

(2014) Warren Strober et al.   IMMUNOLOGICAL REVIEWS

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

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

TLR2 and TLR9 Synergistically Control Herpes Simplex Virus Infection in the Brain

(2014) L. N. Sorensen et al.   JOURNAL OF IMMUNOLOGY

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

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

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna 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

Blau Syndrome, the prototypic auto-inflammatory granulomatous disease

(2014) Carine H Wouters et al.   Pediatric Rheumatology

Identification of an LGP2-associated MDA5 agonist in picornavirus-infected cells

(2014) Safia Deddouche et al.   eLife

Antimicrobial functions of inflammasomes

(2013) Kaiwen W Chen et al.   CURRENT OPINION IN MICROBIOLOGY

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

(2013) Amelia McDermott et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pivotal Roles of cGAS-cGAMP Signaling in Antiviral Defense and Immune Adjuvant Effects

(2013) X.-D. Li et al.   SCIENCE

Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens

(2013) Jasmin B Kuemmerle-Deschner et al.   ARTHRITIS RESEARCH & THERAPY

Interleukin-18 and IL-18 Binding Protein

(2013) Charles A. Dinarello et al.   Frontiers in Immunology

The immunoproteasome in antigen processing and other immunological functions

(2012) Michael Basler et al.   CURRENT OPINION IN IMMUNOLOGY

NLRP1 Inflammasome Activation Induces Pyroptosis of Hematopoietic Progenitor Cells

(2012) Seth L. Masters et al.   IMMUNITY

NLRP12 Suppresses Colon Inflammation and Tumorigenesis through the Negative Regulation of Noncanonical NF-κB Signaling

(2012) Irving C. Allen et al.   IMMUNITY

Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2–related disorders Blau syndrome and Crohn disease

(2012) Carl E.I. Janssen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

(2012) Melina Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inflammasomes in health and disease

(2012) Till Strowig et al.   NATURE

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

(2012) Gillian I Rice et al.   NATURE GENETICS

Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases

(2012) Charles A. Dinarello et al.   NATURE REVIEWS DRUG DISCOVERY

Cyclic GMP-AMP Is an Endogenous Second Messenger in Innate Immune Signaling by Cytosolic DNA

(2012) J. Wu et al.   SCIENCE

MDA5 Detects the Double-Stranded RNA Replicative Form in Picornavirus-Infected Cells

(2012) Qian Feng et al.   Cell Reports

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes

(2011) J. B. Kuemmerle-Deschner et al.   ANNALS OF THE RHEUMATIC DISEASES

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

(2011) Isabelle Jéru et al.   ARTHRITIS AND RHEUMATISM

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy

(2011) Isabelle Jéru et al.   ARTHRITIS AND RHEUMATISM

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

(2011) Yin Liu et al.   ARTHRITIS AND RHEUMATISM

The machinery of Nod-like receptors: refining the paths to immunity and cell death

(2011) Maya Saleh   IMMUNOLOGICAL REVIEWS

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

(2011) Akiko Kitamura et al.   JOURNAL OF CLINICAL INVESTIGATION

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

(2011) Yiqi Guo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STING is a direct innate immune sensor of cyclic di-GMP

(2011) Dara L. Burdette et al.   NATURE

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

(2011) David C. Goldstone et al.   NATURE

Autophagy in immunity and inflammation

(2011) Beth Levine et al.   NATURE

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

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

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

Immunodeficiency and Genetic Defects of Pattern-Recognition Receptors

(2011) Mihai G. Netea et al.   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

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An autoimmune disease prevented by anti-retroviral drugs

(2011) Gabriele B Beck-Engeser et al.   Retrovirology

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

(2010) S. Borghini et al.   ARTHRITIS AND RHEUMATISM

Immunoproteasomes Preserve Protein Homeostasis upon Interferon-Induced Oxidative Stress

(2010) Ulrike Seifert et al.   CELL

Benefits and risks of interferon therapy for hepatitis B

(2010) Robert Perrillo   HEPATOLOGY

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

Anti-Interleukin 1 Treatment for Patients with Familial Mediterranean Fever Resistant to Colchicine: Table 1.

(2010) SEZA ÖZEN et al.   JOURNAL OF RHEUMATOLOGY

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

(2010) Antonio Torrelo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Early Innate Recognition of Herpes Simplex Virus in Human Primary Macrophages Is Mediated via the MDA5/MAVS-Dependent and MDA5/MAVS/RNA Polymerase III-Independent Pathways

(2010) J. Melchjorsen et al.   JOURNAL OF VIROLOGY

Interferon Regulatory Factor 3-Dependent Pathways Are Critical for Control of Herpes Simplex Virus Type 1 Central Nervous System Infection

(2010) V. D. Menachery et al.   JOURNAL OF VIROLOGY

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

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

(2010) Nan Yan et al.   NATURE IMMUNOLOGY

IFI16 is an innate immune sensor for intracellular DNA

(2010) Leonie Unterholzner et al.   NATURE IMMUNOLOGY

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

(2010) Geneviève Bernard et al.   NEUROGENETICS

TRAF5 Is a Downstream Target of MAVS in Antiviral Innate Immune Signaling

(2010) Eric D. Tang et al.   PLoS One

TheNOD2defect in Blau syndrome does not result in excess interleukin-1 activity

(2009) Tammy M. Martin et al.   ARTHRITIS AND RHEUMATISM

Familial mediterranean fever with a singleMEFVmutation: Where is the second hit?

(2009) Matthew G. Booty et al.   ARTHRITIS AND RHEUMATISM

RNA Polymerase III Detects Cytosolic DNA and Induces Type I Interferons through the RIG-I Pathway

(2009) Yu-Hsin Chiu et al.   CELL

Solution Structures of Cytosolic RNA Sensor MDA5 and LGP2 C-terminal Domains

(2009) Kiyohiro Takahasi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Local Type I IFN Receptor Signaling Protects against Virus Spread within the Central Nervous System

(2009) C. N. Detje et al.   JOURNAL OF IMMUNOLOGY

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Different modes of ubiquitination of the adaptor TRAF3 selectively activate the expression of type I interferons and proinflammatory cytokines

(2009) Ping-Hui Tseng et al.   NATURE IMMUNOLOGY

Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome

(2009) Helen J. Lachmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies

(2008) Hal M. Hoffman et al.   ARTHRITIS AND RHEUMATISM

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

TRAF2 and TRAF3 Signal Adapters Act Cooperatively to Control the Maturation and Survival Signals Delivered to B Cells by the BAFF Receptor

(2008) Sandra Gardam et al.   IMMUNITY

TRADD Protein Is an Essential Component of the RIG-like Helicase Antiviral Pathway

(2008) Marie-Cécile Michallet et al.   IMMUNITY

Structure and Function of LGP2, a DEX(D/H) Helicase That Regulates the Innate Immunity Response

(2008) Ayaluru Murali et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enhanced Pathogenesis of an Attenuated Herpes Simplex Virus for Mice Lacking Stat1

(2008) T. J. Pasieka et al.   JOURNAL OF VIROLOGY

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(2008) You-Me Kim et al.   NATURE

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(2008) Hiroki Ishikawa et al.   NATURE

ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling

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Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA