Welcome to the 2021 LUPUS CORA Meeting Program Scheduling
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CORA Topics || ASL04 AUTOINFLAMMATORY DISEASES, CORA Topics || ASL19 MISCELLANEOUS, No Topic Needed
- Gyorgy Nagy (Hungary)
Introduction and Polling by Chairperson
- Gyorgy Nagy (Hungary)
Can autoimmunity and autoinflammation be separated? YES: there are two endpoints, phenotypic differences
- Zoltán Szekanecz (Hungary)
Can autoimmunity and autoinflammation be separated? NO: there is no such distinction
- Carlo Chizzolini (Switzerland)
Live rebuttal
- Zoltán Szekanecz (Hungary)
Live rebuttal
- Carlo Chizzolini (Switzerland)
Panel discussion - Live
POLYAUTOIMMUNITY IS PRESENT IN A THIRD OF LUPUS PATIENTS IN COLOMBIA - ITS ASSOCIATED FACTORS.
- Pedro Santos-Moreno (Colombia)
Abstract
Background and Aims
Polyautoimmunity (PolyA) is defined as the presence of more than one autoimmune disease (AD) in a single patient and Systemic Lupus Erythematosus (SLE) is one of the most frequently involved AD. The aim of this study was to describe an estimated prevalence of PolyA in a Colombian-single center Systemic Lupus Erythematosus cohort and to analyze the presumable associated factors for PolyA.
Methods
This was a cross sectional study. All patients with SLE at our specialized rheumatology center from January 2015 to December 2020 were identified. All consecutive patients fulfilling SLICC/2012 criteria were analyzed. Data recorded included demographics, SLE and PolyA characteristics, laboratory, and treatments. Biostatistical methods included bivariate and multivariate analyses (binary logistic regression) to identify the factors associated with PolyA (p-value <0.05, SPSS V20).
Results
A total of 480 fulfilled SLICC/2012 criteria (422 females, mean age 47.7±15.3 years, mean duration of disease 11.24±8.9 years). There were 161/463 (33.5%) patients with PolyA of which 16.8% had 2 or more AD (i.e., Multiple Autoimmune Syndrome). The most frequent PolyA were antiphospholipid syndrome (47.8%), Sjögren’s syndrome (30.4%) and Systemic sclerosis (10.6%). PolyA patients were older, had higher age at onset, longer duration of disease (bivariate analysis) and less renal compromise (multivariate analysis). There were additional associated factors identified through the bivariate and multivariate models (Figure-table).
Conclusions
Near a third of SLE patients had PolyA. This was significantly associated with venous thrombosis, sicca symptoms and APS antibodies. An inverse association with lupus nephritis was found. This could encourage additional research evaluating PolyA associations in different populations.
Live Q&A
INTERFERON INFLAMMATION IN A CASE WITH PAMI SYNDROME AND POSSIBLE RELATIONSHIP WITH GENE EXPRESSION
- Alessia Pin (Italy)
Abstract
Background and Aims
Pathogenic heterozygous variants in PSTPIP1 lead to excessive IL1 mediated inflammation, which is the cause of rare autoinflammatory syndromes: PAPA (pyogenic arthritis, pyoderma gangrenosum, acne) and the more recently described PAMI (PSTPIP1-associated myeloid-related proteinemia inflammatory). We investigated gene expression in patients reported in the following table to better understand the molecular pathogenesis of these diseases.
Family | Patient (pt) | PSTPIP1 mutations | Clinical symptoms | Treatment | Reference (PMID) |
Family-1 (PAPA) | Pt1-father | A230T | Arthritis, acne | Anakinra | 15580218 |
Pt2-son | A230T | Arthritis | Canakinumab | ||
Family-2 (PAMI) | Pt3-brother | E250K | Leukopenia, neutropenia, acne | Anakinra | 28628471 |
Pt4-sister | E250K | Leukopenia, neutropenia | Anakinra | ||
Family-3 (PAMI) | Pt5 | E250K | Leukopenia, Atypical: SLE-like features (autoantibodies,nephritis, pulmonary arterial hypertension) | Hydroxychloroquine (HCQ) |
Methods
Transcriptomic studies of blood cells from our patients compared with a group of healthy subjects and pathway over-representation analysis to investigate the main biological processes involved.
Results
Transcriptomics analysis highlighted the heme metabolism pathway which is over-expressed among all the patients compared with controls, already known to be involved in physiological and pathological processes. Patients with PAMI showed neutrophils degranulation pathway over-represented, probably due to neutrophiles hyper-activation. Only pt5 presented a high-interferon-score that recovered after therapy with HCQ.
Conclusions
The presence of lupus-like manifestations in PAMI has never reported so far. Even if only one of our patients with PAMI displayed interferon-related inflammation, we can speculate a possible cross-talk between IL1 and interferon pathways. A possible hypothesis, which could be worth investigating, is that the increased neutrophil activation pathway found in PAMI could be associated to the release of NETs and to the activation of interferon signaling.
Live Q&A
TEARS PROTEOMIC PROFILING OF BLAU SYNDROME FOR IDENTIFICATION OF POTENTIAL DISEASE BIOMARKERS
- Paola Galozzi (Italy)
Abstract
Background and Aims
Blau Syndrome (BS) is a very rare autosomal dominant inherited autoinflammatory disorder. Ophthalmic involvement is a severe, degenerative and often insufficiently controlled issue of BS. Currently, there are no predictive markers of disease at ocular level to target for treatments. Thus, we aim to investigate in depth the molecular aspects involved in ocular inflammation in BS.
Methods
To investigate the tear proteome of a BS patient with advanced eye degeneration, three healthy family members and three healthy controls, tear fluids collected via Schirmer’s strips were the starting materials. LC-MS/MS analysis was conducted with a LTQ-OrbitrapXL mass spectrometer. Data were searched against the Uniprot Database and filtered to consider only high confidence proteins. T test assessed the differential expressed proteins amongst samples.
Results
Overall, 291 proteins (145 differential expressed between BS and healthy subjects, 40 BS-associated, 1 control-associated) were identified and considered clinically interesting with a fold change >5. BS-associated overexpressed proteins included immunoglobulins and proteins related to the innate immunity and the proteolysis. Among the proteins mainly expressed in BS, alpha2-macroglobulin (increased 27 times) and SERPINA1 (increased 9 times) may have a role in sustained ocular inflammation. Of particular interest the finding of the under-expression of Phospholipase A2 in BS patient. This protein has a crucial role in inflammatory response and signal trasduction.
Conclusions
Our study provides a first insight into the ocular proteomic of BS. The newly described BS-associated proteins might become tools for eye degeneration risk assessment in BS patients.
Live Q&A
Live Session summary by Chairperson
- Gyorgy Nagy (Hungary)