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

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

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

cGAS in action: Expanding roles in immunity and inflammation

(2019) Andrea Ablasser et al.   SCIENCE

STING-associated lung disease in mice relies on T cells but not type I interferon

(2019) Hella Luksch et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

(2019) Stefano Volpi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death

(2019) Rune Busk Damgaard et al.   EMBO Molecular Medicine

ENaC-mediated sodium influx exacerbates NLRP3-dependent inflammation in cystic fibrosis

(2019) Thomas Scambler et al.   eLife

Metabolic Reprograming of Cystic Fibrosis Macrophages via the IRE1α Arm of the Unfolded Protein Response Results in Exacerbated Inflammation

(2019) Samuel Lara-Reyna et al.   Frontiers in Immunology

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

(2019) Najoua Lalaoui et al.   NATURE

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

(2019) Panfeng Tao et al.   NATURE

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

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

(2018) Angeliki Giannelou et al.   ANNALS OF THE RHEUMATIC DISEASES

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

(2018) Florence A Aeschlimann et al.   ANNALS OF THE RHEUMATIC DISEASES

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

(2018) Florian Berteau et al.   AUTOIMMUNITY REVIEWS

Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity

(2018) Laurène Pfajfer 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

The cGAS–cGAMP–STING pathway connects DNA damage to inflammation, senescence, and cancer

(2018) Tuo Li et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

Multi-omics monitoring of drug response in rheumatoid arthritis in pursuit of molecular remission

(2018) Shinya Tasaki et al.   Nature Communications

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

(2018) Hiroyasu Konno et al.   Cell Reports

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

(2018) Rohit G. Saldanha et al.   Frontiers in Immunology

Age and Age-Related Diseases: Role of Inflammation Triggers and Cytokines

(2018) Irene Maeve Rea et al.   Frontiers in Immunology

A Case of Adult-Onset Still’s Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab

(2018) Dylan Lawless et al.   Frontiers in Immunology

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

(2018) Eldad Ben-Chetrit et al.   ANNALS OF THE RHEUMATIC DISEASES

Mechanistic immunological based classification of rheumatoid arthritis

(2018) Dennis McGonagle et al.   AUTOIMMUNITY REVIEWS

Itaconate is an anti-inflammatory metabolite that activates Nrf2 via alkylation of KEAP1

(2018) Evanna L. Mills et al.   NATURE

Autoinflammation due to homozygous S208 MEFV mutation

(2018) Ying Hong et al.   ANNALS OF THE RHEUMATIC DISEASES

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

(2018) Coralie Briand et al.   ANNALS OF THE RHEUMATIC DISEASES

JAK 1/2 Blockade in MDA5 Gain-of-Function

(2018) Kirsty E. McLellan et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Ca2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum

(2018) Sonal Srikanth et al.   NATURE IMMUNOLOGY

Magnitude of Therapeutic STING Activation Determines CD8+ T Cell-Mediated Anti-tumor Immunity

(2018) Kelsey E. Sivick et al.   Cell Reports

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

(2017) Meri Kaustio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

HumanRELAhaploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

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

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

(2017) Silvia Cerboni et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STING-associated vasculopathy develops independently of IRF3 in mice

(2017) James D. Warner et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome

(2017) Yvan Jamilloux et al.   RHEUMATOLOGY

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome

(2017) Seza Ozen et al.   ARTHRITIS CARE & RESEARCH

Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

(2017) Pamela P. Lee et al.   Nature Communications

Innate Immune Responses and Osteoarthritis

(2017) Evangelia Kalaitzoglou et al.   Current Rheumatology Reports

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

(2017) Ivona Aksentijevich et al.   Frontiers in Immunology

Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles

(2017) Arsen Arakelyan et al.   PLoS One

Personalized Immunomonitoring Uncovers Molecular Networks that Stratify Lupus Patients

(2016) Romain Banchereau et al.   CELL

NEMO Prevents RIP Kinase 1-Mediated Epithelial Cell Death and Chronic Intestinal Inflammation by NF-κB-Dependent and -Independent Functions

(2016) Katerina Vlantis et al.   IMMUNITY

Inflammasomes link vascular disease with neuroinflammation and brain disorders

(2016) Nikolett Lénárt et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Autoinflammatory diseases: update on classification diagnosis and management

(2016) Shelly Pathak et al.   JOURNAL OF CLINICAL PATHOLOGY

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS

(2016) Yong Hwan Park et al.   NATURE IMMUNOLOGY

The danger from within: alarmins in arthritis

(2016) Meriam Nefla et al.   Nature Reviews Rheumatology

Site-specific phosphorylation and microtubule dynamics control Pyrin inflammasome activation

(2016) Wenqing Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

(2016) Qing Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

(2016) Hanne Van Gorp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

(2016) Nienke M. ter Haar et al.   Arthritis & Rheumatology

Clinical Implications of Basic Science Discoveries: Immune Homeostasis and the Microbiome-Dietary and Therapeutic Modulation and Implications for Transplantation

(2015) J. A. Fishman et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β

(2015) Man Lyang Kim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

(2015) Qing Zhou et al.   NATURE GENETICS

Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond

(2015) Amma F. Agyemang et al.   Seminars in Immunopathology

Mechanisms of inflammasome activation: recent advances and novel insights

(2015) Sivapriya K. Vanaja et al.   TRENDS IN CELL BIOLOGY

Mechanism of NLRP3 inflammasome activation

(2014) Fayyaz S. Sutterwala et al.   Annals of the New York Academy of Sciences

The hereditary autoinflammatory disorders uncovered

(2014) Donato Rigante et al.   AUTOIMMUNITY REVIEWS

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

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

The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages

(2014) T. W. Starnes et al.   BLOOD

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

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

Dietary modulation of the microbiome affects autoinflammatory disease

(2014) John R. Lukens et al.   NATURE

Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome

(2014) Hao Xu et al.   NATURE

New monogenic diseases span the immunological disease continuum

(2014) Sinisa Savic et al.   Nature Reviews Rheumatology

Activated STING in a Vascular and Pulmonary Syndrome

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

Regulation of NF-κB by TNF family cytokines

(2014) Matthew S. Hayden et al.   SEMINARS IN IMMUNOLOGY

Synovial phenotypes in rheumatoid arthritis correlate with response to biologic therapeutics

(2014) Glynn Dennis et al.   ARTHRITIS RESEARCH & THERAPY

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

(2013) D. H. Wiseman et al.   BLOOD

How should we approach classification of autoinflammatory diseases?

(2013) Gilles Grateau et al.   Nature Reviews Rheumatology

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin

(2013) Seza Ozen et al.   Nature Reviews Rheumatology

First Clinical Description of an Infant With Interleukin-36-Receptor Antagonist Deficiency Successfully Treated With Anakinra

(2013) L. Rossi-Semerano et al.   PEDIATRICS

Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome

(2012) Laura J Dickie et al.   ANNALS OF THE RHEUMATIC DISEASES

Inflammasomes and Their Roles in Health and Disease

(2012) Mohamed Lamkanfi et al.   Annual Review of Cell and Developmental Biology

DIRA, DITRA, and New Insights Into Pathways of Skin Inflammation

(2012) Edward W. Cowen   ARCHIVES OF DERMATOLOGY

Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives

(2012) Sinisa Savic et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Regulation of NF-κB signaling by the A20 deubiquitinase

(2012) Noula Shembade et al.   Cellular & Molecular Immunology

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease

(2012) Michael H. Yan et al.   FREE RADICAL BIOLOGY AND MEDICINE

Activated phenotype of circulating neutrophils in familial Mediterranean fever

(2012) Gayane Manukyan et al.   IMMUNOBIOLOGY

PAMPs and DAMPs: signal 0s that spur autophagy and immunity

(2012) Daolin Tang et al.   IMMUNOLOGICAL REVIEWS

Inflammasomes in health and disease

(2012) Till Strowig et al.   NATURE

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Osteoarthritis as an inflammatory disease (osteoarthritis is not osteoarthrosis!)

(2012) F. Berenbaum   OSTEOARTHRITIS AND CARTILAGE

Signaling in Innate Immunity and Inflammation

(2012) K. Newton et al.   Cold Spring Harbor Perspectives in Biology

Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway

(2011) B. W. Higgs et al.   ANNALS OF THE RHEUMATIC DISEASES

Editorial: Osteoarthritis as an autoinflammatory disease caused by chondrocyte-mediated inflammatory responses

(2011) Y. T. Konttinen et al.   ARTHRITIS AND RHEUMATISM

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

(2011) Fumiyo Ikeda et al.   NATURE

Pattern Recognition Receptors and Inflammation

(2010) Osamu Takeuchi et al.   CELL

Immunodeficiency due to mutations in ORAI1 and STIM1

(2010) Stefan Feske et al.   CLINICAL IMMUNOLOGY

Sensing Cytoplasmic Danger Signals by the Inflammasome

(2010) Emad S. Alnemri   JOURNAL OF CLINICAL IMMUNOLOGY

Pyrin Modulates the Intracellular Distribution of PSTPIP1

(2009) Andrea L. Waite et al.   PLoS One

The IKK Complex, a Central Regulator of NF- B Activation

(2009) A. Israel   Cold Spring Harbor Perspectives in Biology

The Nuclear Factor NF- B Pathway in Inflammation

(2009) T. Lawrence   Cold Spring Harbor Perspectives in Biology

Pyrin and ASC Co-Localize to Cellular Sites that Are Rich in Polymerizing Actin

(2008) Andrea L. Waite et al.   EXPERIMENTAL BIOLOGY AND MEDICINE