Publications by authors named "C Goulvestre"
Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.
View Article and Find Full Text PDFBACKGROUNDWeakly virulent environmental mycobacteria (EM) can cause severe disease in HLA-DRB1*15:02 or 16:02 adults harboring neutralizing anti-IFN-γ autoantibodies (nAIGAs). The overall prevalence of nAIGAs in the general population is unknown, as are the penetrance of nAIGAs in HLA-DRB1*15:02 or 16:02 individuals and the proportion of patients with unexplained, adult-onset EM infections carrying nAIGAs.METHODSThis study analyzed the detection and neutralization of anti-IFN-γ autoantibodies (auto-Abs) from 8,430 healthy individuals of the general population, 257 HLA-DRB1*15:02 or 16:02 carriers, 1,063 patients with autoimmune disease, and 497 patients with unexplained severe disease due to EM.
View Article and Find Full Text PDFObjectives: There is an increasing body of evidence suggesting a direct pathophysiological role of anti-citrullinated peptide antibodies (ACPA) in rheumatoid arthritis (RA), and immunological remission could be a target for treatment. However, data related to the ability of biologics to reduce ACPA titres are contradictory.We aimed to evaluate the changes in ACPA titres after treatment with different biologics in patients with RA.
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- The study aimed to identify homogeneous subgroups among patients with anti-PM-scleroderma-antibodies (PM-Scl-Abs) across various autoimmune diseases.
- Data from 142 patients were analyzed and categorized into three distinct clusters based on their clinical and biological characteristics, focusing on skin and lung involvement.
- The findings suggest that these subgroups exhibit differing clinical features and outcomes, with skin thickening and non-specific interstitial pneumonia (NSIP) being key factors for classification.
Article Synopsis
- This study evaluated the effectiveness of a new plasma quantification method (mAbXmise kit) for infliximab and adalimumab compared to traditional ELISA methods in patients with inflammatory bowel disease.
- The mAbXmise method used liquid chromatography tandem mass spectrometry (LC-MS/MS) and showed a linear range of 2 to 100 μg/ml, validated according to international standards.
- Results indicated that the bias in measuring infliximab was significantly higher with commercial ELISA compared to an in-house ELISA, while the bias for adalimumab was smaller, suggesting that LC-MS/MS is a robust alternative for monitoring these medications.