Publications by authors named "L Caminal-Montero"

Objective:  The present work evaluates the predictive value of low-density granulocytes (LDGs) for the development of cardiovascular disease (CVD) and/or bone deterioration (BD) in a 6-year prospective study in systemic lupus erythematosus (SLE). Considering the high SLE-LDG capacity to form neutrophil extracellular traps (NETs), circulating levels of total cell-free DNA (cirDNA) and relative amounts of mitochondrial and nuclear DNA (mtDNA and nDNA, respectively) were tested as LDG-associated biomarkers to identify SLE patients at risk of CVD and BD.

Material And Methods:  The frequency of total blood LDGs, as well as the CD16CD14 (nLDG) and CD16CD14 (pLDG) subsets, was quantified by flow cytometry in 33 controls and 144 SLE patients.

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(rs11150612, rs11574637), rs17019602, rs4077515, (rs2738048, rs10086568), and rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls.

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Article Synopsis
  • VEXAS syndrome is an adult-onset autoinflammatory disease caused by postzygotic genetic variants, affecting males with symptoms like skin lesions, fever, and arthritis at a mean age of 67.5 years.
  • In a study of 42 patients, 30 were identified with pathogenic genetic variants and showed varying degrees of glucocorticoid dependence for symptom management.
  • The research revealed that these variants were present in both blood and non-blood tissues, challenging the previous understanding that these genetic changes were limited to myeloid (blood) cells.
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