Autoinflammatory & rare systemic diseases
Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1.
Authors' conclusion
Our data suggest that a functional diagnostic assay based on CCL1 or CXCL1 levels in pyrin-activated patient monocytes may contribute to FMF diagnosis in patients with VUS.
Study context
- Population
- Clinically and MEFV genotype-characterized familial Mediterranean fever (FMF) patients enrolled from major Danish hospitals28 in monocyte profiling
- Participants
- 91 participants
- Exposure
- Pyrin-activated monocytes from FMF patients vs healthy donors
- FMFn = 28
- Outcome
- Secretory profile of pyrin inflammasome-activated monocytes: custom panel of 23 cytokines, chemokines and soluble TNF receptors
Methodological detailsclinically and MEFV genotype-characterized cohort, multicentre (major Danish hospitals), ex vivo pyrin inflammasome activation of monocytes
- Clinically and MEFV genotype-characterized cohort
- Multicentre (major Danish hospitals)
- Ex vivo pyrin inflammasome activation of monocytes
Main finding
As reported in the abstract
Discrimination of FMF with 'non-confirmatory' MEFV genotypes from healthy donors (HDs), sensitivity CCL1 (p < 0.05)
80.0%
Discrimination of FMF with 'non-confirmatory' MEFV genotypes from HDs, sensitivity CXCL1 (p < 0.05)
70.0%
Observational data: associations, not effects.
Further findings
Association of MEFV genotypes with clinical features
- Age at symptom onset
- P < 0.05
- FMF among relatives
- P < 0.01
- Proportion in colchicine treatment
- P < 0.01
- Treatment response
- P < 0.05
Original publication
Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1. Scand J Rheumatol. Published 8 March 2022. doi:10.
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