The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis

No abstract is available for this paper.

• Publication year

  2025

• Venue

  Nature Reviews Rheumatology

• Publication date

  2025-05-14

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/s41584-025-01250-9PMID 40369133
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review

  2025cited by this paper
• Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus

  2024cited by this paper
• The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench

  2024cited by this paper
• Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies

  2024cited by this paper
• Successful Treatment of Stimulator of Interferon Genes-Associated Vasculopathy of Infantile Onset SAVI Syndrome With Anifrolumab.

  2024cited by this paper
• Human ADA2 Deficiency: Ten Years Later

  2024cited by this paper
• Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX

  2024cited by this paper
• ADA2 regulates inflammation and hematopoietic stem cell emergence via the A2bR pathway in zebrafish

  2024cited by this paper
• Baricitinib treatment in children with COPA syndrome.

  2024cited by this paper
• Endothelial cell expression of a STING gain-of-function mutation initiates pulmonary lymphocytic infiltration

  2024cited by this paper
• The Complexity of Being A20: From Biological Functions to Genetic Associations

  2024cited by this paper
• Shared and distinct mechanisms of UBA1 inactivation across different diseases

  2024cited by this paper
• Venous and Arterial Thrombosis in Patients with VEXAS Syndrome.

  2024cited by this paper
• VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

  2024cited by this paper
• Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

  2024cited by this paper
• Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome

  2024cited by this paper
• Case report: Novel variants in RELA associated with familial Behcet’s-like disease

  2023cited by this paper
• A20 haploinsufficiency: A systematic review of 177 cases.

  2023cited by this paper
• Blood Count Recovery and Telomere Elongation in a TINF2 Patient Under Treatment with a Gonadotropin-Releasing Hormone (GnRH) Agonist

  2023cited by this paper
• Clonal haematopoiesis across the age spectrum of vasculitis patients with Takayasu’s arteritis, ANCA-associated vasculitis and giant cell arteritis

  2023cited by this paper
• Genetic testing of Behçet’s disease using next-generation sequencing to identify monogenic mimics and HLA-B*51

  2023cited by this paper
• VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management

  2023cited by this paper
• COPA syndrome caused by a novel p.Arg227Cys COPA gene variant

  2023cited by this paper
• Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

  2023cited by this paper
• Association of Somatic TET2 Mutations With Giant Cell Arteritis

  2023cited by this paper
• COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.

  2023cited by this paper
• Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

  2023cited by this paper
• Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

  2023cited by this paper
• Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.

  2023cited by this paper
• Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.

  2023cited by this paper
• Spectrum of clonal hematopoiesis in VEXAS syndrome.

  2023cited by this paper
• Is your kid actin out? A series of six patients with inherited ARPC1B deficiency and review of the literature.

  2023cited by this paper
• Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

  2023cited by this paper
• Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI)

  2022cited by this paper
• Vascular Behçet syndrome: from pathogenesis to treatment

  2022cited by this paper
• Vasculitis and familial Mediterranean fever: Description of 22 French adults from the juvenile inflammatory rheumatism cohort

  2022cited by this paper
• Pleuropulmonary manifestations of VEXAS syndrome.

  2022cited by this paper
• Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

  2022cited by this paper
• Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

  2022cited by this paper
• De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder

  2022cited by this paper
• Vasculitis associated with VEXAS syndrome: A literature review

  2022cited by this paper
• Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity

  2022cited by this paper
• Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.

  2022cited by this paper
• VEXAS Syndrome and Disease Taxonomy in Rheumatology

  2022cited by this paper
• An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.

  2022cited by this paper
• Disorders of ubiquitylation: unchained inflammation

  2022cited by this paper
• Type I interferon-related kidney disorders.

  2022cited by this paper
• The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

  2022cited by this paper
• Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency

  2022cited by this paper
• Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)

  2022cited by this paper
• Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

  2021cited by this paper
• Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation

  2021cited by this paper
• A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

  2021cited by this paper
• Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).

  2021cited by this paper
• STING-Mediated Lung Inflammation and Beyond

  2021cited by this paper
• Systematic review of childhood-onset polyarteritis nodosa and DADA2.

  2021cited by this paper
• Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

  2021cited by this paper
• HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related auto-inflammatory disease.

  2021cited by this paper
• Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases

  2021cited by this paper
• Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

  2021cited by this paper
• Hematopoietic stem cell transplantation in a patient with proteasome-associated auto-inflammatory syndrome (PRAAS).

  2021cited by this paper
• Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.

  2021cited by this paper
• Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.

  2021cited by this paper
• Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.

  2021cited by this paper
• VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis

  2021cited by this paper
• Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients *

  2021cited by this paper
• TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

  2021cited by this paper
• Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report

  2021cited by this paper
• A20 Haploinsufficiency in East Asia

  2021cited by this paper
• Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

  2021cited by this paper
• VEXAS syndrome

  2021cited by this paper
• Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

  2020cited by this paper
• Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

  2020cited by this paper
• TBK1 and IKKε Act Redundantly to Mediate STING-Induced NF-κB Responses in Myeloid Cells.

  2020cited by this paper
• A Defect in Thymic Tolerance Causes T Cell–Mediated Autoimmunity in a Murine Model of COPA Syndrome

  2020cited by this paper
• Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)

  2020cited by this paper
• Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.

  2020cited by this paper
• Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene

  2020cited by this paper
• Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)

  2020cited by this paper
• Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

  2020cited by this paper
• Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients.

  2020cited by this paper
• A20 Haploinsufficiency Presenting with a Combined Immunodeficiency

  2020cited by this paper
• Type I interferon-independent T cell impairment in a Tmem173 N153S/WT mouse model of STING associated vasculopathy with onset in infancy (SAVI).

  2020cited by this paper
• Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

  2020cited by this paper
• A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome

  2020cited by this paper
• Two distinct ubiquitin-binding motifs in A20 mediate its anti-inflammatory and cell-protective activities

  2020cited by this paper
• Non-catalytic ubiquitin binding by A20 prevents psoriatic arthritis-like disease and inflammation

  2020cited by this paper
• Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

  2020cited by this paper
• A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

  2020cited by this paper
• Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2

  2020cited by this paper
• ADA2 deficiency due to a novel structural variation in 22q11.1

  2019cited by this paper
• A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

  2019cited by this paper
• Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

  2019cited by this paper
• Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis

  2019cited by this paper
• STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib

  2019cited by this paper
• APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

  2019cited by this paper
• A20 at the Crossroads of Cell Death, Inflammation, and Autoimmunity.

  2019cited by this paper
• A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

  2019cited by this paper
• Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

  2019cited by this paper
• Treatment Strategies for Deficiency of Adenosine Deaminase 2.

  2019cited by this paper

• New insights into clinical spectrum of antineutrophil cytoplasmic autoantibody associated disease.

  2026cites this paper
• Applications of genetic testing in cardiovascular disease.

  2026cites this paper
• Metabolic masqueraders of paediatric and adult rheumatic diseases.

  2026cites this paper
• Inborn errors of immunity and AAV: a complex picture

  2025cites this paper
• Case Report: Novel UNC93B1 variant causes rheumatoid arthritis and interstitial pneumonia

  2025cites this paper
• Clinical features and genetic analysis of A20 haploinsufficiency

  2025cites this paper
• Polyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.

  2025cites this paper
• Integrated Stress Response (ISR) Modulators in Vascular Diseases

  2025cites this paper
• Challenges in the diagnosis, classification and prognosis of ANCA-associated vasculitis

  2025cites this paper
• Vasculitis in autoinflammatory diseases.

  2025cites this paper
• Reply to ‘Inborn errors of immunity and AAV: a complex picture’

  2025cites this paper