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| 36332842 | Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy. | Ophthalmology | 2023 |
| 37586319 | Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS. | Cell Rep Med | 2023 |
| 37084382 | Spectrum of clonal hematopoiesis in VEXAS syndrome. | Blood | 2023 |
| 37256972 | Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome. | N Engl J Med | 2023 |
| 37256629 | Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement. | JAMA Netw Open | 2023 |
| 36941081 | TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series. | Neurol Neuroimmunol Neuroinflamm | 2023 |
| 36692560 | Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. | JAMA | 2023 |
| 36926348 | Case report: Novel variants in RELA associated with familial Behcet's-like disease. | Front Immunol | 2023 |
| 35095905 | The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. | Front Immunol | 2022 |
| 35523963 | Disorders of ubiquitylation: unchained inflammation. | Nature reviews. Rheumatology | 2022 |
| 35587511 | Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. | Science | 2022 |
| 36223753 | Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism. | Cell Reports | 2022 |
| 35696333 | VEXAS Syndrome and Disease Taxonomy in Rheumatology. | Arthritis Rheumatol | 2022 |
| 35623638 | The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated period | Annals of the Rheumatic Diseases | 2022 |
| 35621220 | The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Period | Arthritis and Rheumatology | 2022 |
| 35868845 | Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Ann Rheum Dis | 2022 |
| 35793467 | Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. | Blood | 2022 |
| 36494621 | Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever. | | 2022 |
| 34780847 | TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). | J Allergy Clin Immunol | 2022 |
| 34492165 | Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1. | Arthritis and Rheumatology | 2022 |
| 34363755 | Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. | Cell | 2021 |
| 33892719 | Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report. | Pediatr Rheumatol Online J | 2021 |
| 33523931 | Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. | Sci Adv | 2021 |
| 33779074 | Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. | Arthritis Rheumatol | 2021 |
| 33619160 | Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. | Ann Rheum Dis | 2021 |
| 33288963 | Author Correction: A guiding map for inflammation. | Nat Immunol | 2021 |
| 33021335 | Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. | Arthritis Rheumatol | 2021 |
| 34427584 | Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. | Blood Adv | 2021 |
| 33108101 | Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease. | N Engl J Med | 2020 |
| 32353490 | Deficiency of adenosine deaminase 2: Is it an elephant after all? | Journal of Allergy and Clinical Immunology | 2020 |
| 31827281 | Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. | Nature | 2020 |
| 32222457 | Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2. | J Invest Dermatol | 2020 |
| 31767699 | Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20. | Ann Rheum Dis | 2020 |
| 31871193 | <i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry. | Proc Natl Acad Sci U S A | 2020 |
| 32826979 | Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. | Communications Biology | 2020 |
| 32601469 | Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. | Nat Immunol | 2020 |
| 32987090 | The systemic autoinflammatory diseases: Coming of age with the human genome. | Journal of Allergy and Clinical Immunology | 2020 |
| 32638197 | Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. | J Clin Immunol | 2020 |
| 32518111 | Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis. | Proc Natl Acad Sci U S A | 2020 |
| 33116284 | Strategic vision for improving human health at The Forefront of Genomics. | Nature | 2020 |
| 30936877 | Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC. | Front Immunol | 2019 |
| 31456795 | The Pyrin Inflammasome in Health and Disease. | Frontiers in Immunology | 2019 |
| 31018962 | Classification criteria for autoinflammatory recurrent fevers. | Ann Rheum Dis | 2019 |
| 31015188 | Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. | Blood | 2019 |
| 31376265 | Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever. | Clinical and Experimental Rheumatology | 2019 |
| 30995379 | Treatment Strategies for Deficiency of Adenosine Deaminase 2. | N Engl J Med | 2019 |
| 29358286 | Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. | Ann Rheum Dis | 2018 |
| 30100561 | Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. | Annals of the Rheumatic Diseases | 2018 |