CurrentRheuma — Autoinflammatory & rare systemic diseases

Development and validation of a text-mining-based algorithm for detection of rare hereditary periodic fever syndromes

2026-11-13T13:15:46.883Z

Diagnostic or prognostic study · Rheumatology (Oxford), 2026.

Clinical characteristics, inflammatory biomarkers and genetic background of patients with non-hereditary periodic fever syndromes

2026-11-13T11:15:45.584Z

Cohort study · RMD Open, 2026.

An association study suggests that PTPN22 and TNFAIP3, but not STAT4, are risk factors for IgG4-related disease

2026-11-10T18:15:33.627Z

Research article · Clin Exp Rheumatol, 2026.

IgG4-related Castleman disease: clinical-pathological features and therapeutic implications

2026-11-10T18:15:33.627Z

Cohort study · Clin Exp Rheumatol, 2026.

The IgG4ward! Foundation guidelines on the treatment of IgG4-related disease

2026-11-10T05:16:41.340Z

Guideline or statement · Lancet Rheumatol, 2026.

Exploring the faecal miRNA profile in familial Mediterranean fever patients and the role of miR-21-5p in inflammatory pathways associated with FMF pathogenesis

2026-11-05T13:10:58.883Z

Case-control study · Clin Exp Rheumatol, 2026.

Serum ferritin predicts response to tocilizumab in glucocorticoid-resistant adult-onset Still's disease: a prospective real-world cohort study

2026-11-05T13:10:58.883Z

Cohort study · Clin Exp Rheumatol, 2026.

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

2026-11-04T23:58:08.364Z

Cohort study · JAMA, 2023. Prevalence of disease-causing UBA1 variants: Likely somatic variants at known pathogenic UBA1 positions (individuals) 11

Derivation and validation of adult Still Activity Score (SAS)

2026-11-04T23:42:37.367Z

Cross-sectional study · Joint Bone Spine, 2022. SAS discrimination of high vs moderate-inactive AOSD activity (AUC): Derivation: AUC 0.98 (0.96-1.00) · Validation: AUC 0.91 (95%CI: 0.85-0.98)

Quality of life in monogenic autoinflammatory diseases. A review

2026-11-04T23:42:37.367Z

Research article · Joint Bone Spine, 2022. Bibliographic references evaluating impact of monogenic SAIDs on QoL 53

Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1.

2026-11-04T23:40:51.898Z

Cross-sectional study · Scand J Rheumatol, 2022. FMF vs HDs; p < 0.05; significantly decreased in FMF

The Positive Predictive Value of a Very High Serum IgG4 Concentration for the Diagnosis of IgG4-Related Disease

2026-11-04T23:37:51.551Z

Diagnostic or prognostic study · J Rheumatol, 2022. PPV for IgG4-RD: IgG4 >5× ULN: PPV 75.4% (95% CI 68.7-81.3)

IgG4-related disease as a variable-vessel vasculitis: A case series of 13 patients with medium-sized coronary artery involvement

2026-11-04T23:02:07.938Z

Cohort study · Semin Arthritis Rheum, 2023. IgG4-related CAI 13 (4%)

Systematic review on the use of biologics in adult-onset still's disease

2026-11-04T23:02:07.938Z

Meta-analysis · Semin Arthritis Rheum, 2022. Efficacy of bDMARDs: Lack of common assessment criteria; treatment efficacy across studies could not be compared

The external validation of the 2019 ACR/EULAR classification criteria for IgG4-related disease in a large cohort from China

2026-11-04T23:02:07.938Z

Diagnostic or prognostic study · Semin Arthritis Rheum, 2023. Diagnostic performance of the 2019 ACR/EULAR criteria, overall cohort: 2019 ACR/EULAR criteria: sensitivity 76.6% (95% CI: 73.8% to 79.4%); specificity 98.0% (96.0%-99.4%); AUC 0.873 (0.857-0.889)

Potential impact of autoimmune diseases family history in IgG4-related disease: a retrospective cohort study

2026-11-04T22:58:59.711Z

Cohort study · RMD Open, 2023. AID family history: AID-positive 93 (14.8%)

Differential CpG DNA methylation of peripheral B cells, CD4+ T cells, and salivary gland tissues in IgG4-related disease

2026-11-04T22:57:04.788Z

Mechanistic study · Arthritis Res Ther, 2023. DMPs, IgG4-RD vs controls: B cells (10 IgG4-RD vs 10 healthy controls): hypomethylated DMPs 44

Clinical and therapeutic diversity in adult chronic nonbacterial osteomyelitis (CNO) of the sternocostoclavicular region: a meta-analysis

2026-11-04T22:45:44.055Z

Meta-analysis · Rheumatology (Oxford), 2022. Clinical presentation, pooled proportions: Female 67% (95% CI 60, 73)

De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder

2026-11-04T22:39:06.224Z

Mechanistic study · Arthritis Rheumatol, 2022. Functional consequences of LYN variations p.Tyr508His, p.Tyr508Phe and p.Tyr508*: De novo LYN variation (p.Tyr508His) identified in the patient

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement

2026-11-04T19:13:11.788Z

Guideline or statement · JAMA Netw Open, 2023.

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)

2026-11-04T19:07:35.719Z

Research article · Pediatr Rheumatol Online J, 2023. Change in mean DDS from baseline, end of primary treatment period: NNS/CANDLE mean 0.22 · SAVI mean 0.21 · AGS mean 0.07

HLA-B*27 is associated with CNO in a European cohort

2026-11-04T19:07:35.719Z

Case-control study · Pediatr Rheumatol Online J, 2023. HLA-B*27 frequency — CNO cases vs Controls: combined OR 2.2; p-value = 3 × 10-11; higher in all 3 populations

Clinical characteristics of obese patients with adult-onset Still's disease. Data from a large multicentre cohort

2026-11-04T19:01:41.298Z

Cohort study · Joint Bone Spine, 2023. Obese 26 (18.7%)

Adherence to colchicine prophylaxis among patients with familial Mediterranean fever treated with interleukin-1 inhibitors

2026-11-04T18:56:42.207Z

Cohort study · Semin Arthritis Rheum, 2023. Total MPR: crFMF mean 78.9 ± 41.4 · csFMF mean 82.5 ± 80.6

Sarcoidosis rates in BCG-vaccinated and unvaccinated young adults: A natural experiment using Danish registers

2026-11-04T18:56:42.207Z

Cohort study · Semin Arthritis Rheum, 2023. Sarcoidosis incidence, by sex — Low BCG uptake vs High BCG uptake: IRR 1.22 (95% CI 1.02-1.45); men

B cell subsets in adult-onset Still’s disease: potential candidates for disease pathogenesis and immunophenotyping

2026-11-04T18:52:31.576Z

Mechanistic study · Arthritis Res Ther, 2023. Frequencies of peripheral blood B cell subsets, AOSD vs HCs: Disease-promoting subsets (naïve B cells, DN B cells, plasmablasts) increased in AOSD

Prescription Claims for Immunomodulator and Antiinflammatory Drugs Among Persons With Ehlers‐Danlos Syndromes

2026-11-04T18:49:03.987Z

Cohort study · Arthritis Care Res (Hoboken), 2022. At least 1 IMD medication prescribed: EDS 65.4% · Control persons 47.4%

AOSD endotypes based on immune cell profiles: patient stratification with hierarchical clustering analysis

2026-11-04T18:44:40.719Z

Cross-sectional study · Rheumatology (Oxford), 2022. Immune cell profiles and endotypes: Neutrophils and CD8+ T cells higher; monocytes, NK and CD4+ T cells lower in AOSD vs controls all P < 0.005

Inactivated SARS-CoV-2 vaccine does not increase the risk of relapse in patients with clinically inactive adult-onset Still’s disease

2026-11-04T18:44:40.719Z

Cohort study · Rheumatology (Oxford), 2022. Relapse rate: Vaccinated 6.8% · Unvaccinated 6.8%

Incidence, prevalence and mortality of IgG4-related disease in the USA: a claims-based analysis of commercially insured adults

2026-11-04T18:40:08.980Z

Cohort study · Ann Rheum Dis, 2023. Incidence and prevalence of IgG4-RD, 2015–2019: Incidence, 2015 0.78 per 100 000 person-years

Clinical profiles differ in IgG4-related disease with and without allergy: a large case-control study in China

2026-11-04T15:40:35.934Z

Case-control study · Clin Exp Rheumatol, 2022. Prevalence of allergic diseases in IgG4-RD: With allergy 214 (49.3%)

Distinct impact of malignancy and allergy on the clinical and immunological features of IgG4-related disease

2026-11-04T15:40:35.934Z

Cohort study · Clin Exp Rheumatol, 2022. Clinical characteristics by group: Age (years), malignancy vs allergy vs idiopathic: 70.1 vs. 54.4 vs. 64.9 p<0.001

Assessment of patient-reported symptoms and distress in IgG4-related disease (IgG4-RD): Development, clinical validation, and content validation of the IgG4-RD Symptom Severity Index

2026-11-04T15:35:22.665Z

Diagnostic or prognostic study · Semin Arthritis Rheum, 2023. Experienced ≥ 1 symptom 90%

Burden of adult-onset Still's disease: A systematic review of health-related quality of life, utilities, costs and resource use

2026-11-04T15:35:22.665Z

Meta-analysis · Semin Arthritis Rheum, 2023. Studies reporting HRQoL outcomes (one also reporting utilities) 8

The administration of methotrexate in patients with Still's disease, “real-life” findings from AIDA Network Still Disease Registry

2026-11-04T15:35:22.665Z

Cohort study · Semin Arthritis Rheum, 2023. Effectiveness of MTX: change in disease activity (modified systemic score) and clinical remission at end of follow-up: Significant reduction of the modified systemic score

Differential sensitivity of the 2020 revised comprehensive diagnostic criteria and the 2019 ACR/EULAR classification criteria across IgG4-related disease phenotypes: results from a Norwegian cohort

2026-11-04T15:29:46.778Z

Cohort study · Arthritis Res Ther, 2023. Retroperitoneum and Aorta 66.7%; RCD fulfilled (lowest across phenotypes) 66.7%; 2019 ACR/EULAR criteria met (lowest across phenotypes) 27.8%

Detection of a rare variant inPSTPIP1through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype

2026-11-04T15:23:59.664Z

Mechanistic study · Rheumatology (Oxford), 2023. PSTPIP1 p.Arg228Cys variant: penetrance, PSTPIP1 stability, PSTPIP1-pyrin interaction and mature caspase-1 and IL1ß levels: Complete penetrance of the rare PSTPIP1 p.Arg228Cys variant in the family, autosomal dominant pattern (GnomAD frequency) 0.000028

Is Satoyoshi syndrome an autoimmune disease? A systematic review

2026-11-04T15:23:59.664Z

Meta-analysis · Rheumatology (Oxford), 2023. Women 59

Symptomatic myopathies in sarcoidosis: disease spectrum and myxovirus resistance protein A expression

2026-11-04T15:23:59.664Z

Cohort study · Rheumatology (Oxford), 2022. Symptomatic myopathy spectrum: Symptomatic myopathy among sarcoidosis patients 21 of 5885

Evaluation of the safety, efficacy, and mechanism of action of obexelimab for the treatment of patients with IgG4-related disease: an open-label, single-arm, single centre, phase 2 pilot trial

2026-11-04T15:22:51.929Z

Research article · Lancet Rheumatol, 2023. Primary responders (decrease ≥2 from baseline in IgG4-RD responder index), day 169: Patients achieving the primary endpoint 12 (80%) of 15

The 2022 EULAR / ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome ( HLH / MAS )

2026-11-04T15:21:01.873Z

Guideline or statement · Arthritis Rheumatol, 2023.

Single-cell transcriptome analysis profiles cellular and molecular alterations in submandibular gland and blood in IgG4-related disease

2026-11-04T15:19:25.198Z

Mechanistic study · Ann Rheum Dis, 2023. Three novel subsets of tissue-resident immune cells in SMGs of IgG4-RD

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism

2026-11-04T15:19:25.198Z

Cohort study · Ann Rheum Dis, 2023. Patients carrying UBA1 pathogenic variants: Patients carrying UBA1 pathogenic variants, frequencies compatible with postzygotic variants 30

The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS)

2026-11-04T15:19:25.198Z

Guideline or statement · Ann Rheum Dis, 2023.

Autoimmune and Autoinflammatory Connective Tissue Disorders Following COVID-19

2026-11-04T12:45:22.434Z

Cohort study · JAMA Netw Open, 2023. Risk of autoimmune and autoinflammatory connective tissue disorders — COVID-19 vs Controls: aHR 1.12 (95% CI 1.05-1.19); alopecia areata

Effects of interleukin-1 antagonists on de novo and pre-existing damage in patients with familial Mediterranean fever

2026-11-04T12:34:30.142Z

Cohort study · Clin Exp Rheumatol, 2022. Damage according to mADDI: Patients developing de novo damage under IL-1 antagonists (one musculoskeletal, one reproductive) 2

Elevated monocyte distribution width in patients with active adult-onset Still's disease: a novel activity indicator

2026-11-04T12:34:30.142Z

Cross-sectional study · Clin Exp Rheumatol, 2023. MDW: Active AOSD median 28.3 (IQR 23.3-32.1) · Inactive AOSD 19.2 (IQR 18.0-20.6) · Non-severe COVID-19 23.2 (IQR 21.0-25.2)

Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation

2026-11-04T12:34:30.142Z

Research article · Clin Exp Rheumatol, 2022. No disease-causing variant or common affected cellular pathway shared in all index cases

Socio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood

2026-11-04T12:34:30.142Z

Cohort study · Clin Exp Rheumatol, 2022. Improvement in symptoms in adulthood

TNRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome

2026-11-04T12:34:30.142Z

Cohort study · Clin Exp Rheumatol, 2022. pR92Q carriers had an older age of disease onset than classical TRAPS and PFAPA