Publications by authors named "Alba Perez-Pons"

Article Synopsis
  • Systemic mastocytosis (SM) is a complex disease linked to abnormal mast cells that release mediators affecting the immune environment.
  • The study aimed to explore the blood profiles of B-cells, plasma cells, and antibody types in 108 SM patients compared to healthy individuals.
  • Results showed increased immature B-cells and elevated IgM and IgD levels in SM patients, alongside decreased plasma cells across various IgH types, with unique immune patterns based on the SM subtype.
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Article Synopsis
  • Systemic mastocytosis (SM) is a complex disease marked by an increase in abnormal mast cells that can affect the immune system and tumor environment.
  • Researchers analyzed blood samples from 115 SM patients and 83 healthy individuals to assess the distribution of various immune cells and their relationship with disease characteristics.
  • Findings indicated that SM patients had reduced levels of specific immune cell types compared to healthy controls, with these variations depending on the subtype of SM and certain genetic factors linked to the disease.
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Article Synopsis
  • Low-count monoclonal B-cell lymphocytosis (MBL) is linked to a higher risk of severe COVID-19 and potential immunodeficiency.
  • A study involving 336 COVID-19 patients showed that MBL patients had increased counts of certain immune cells, especially plasma cells, but decreased counts of others like lymphocytes, particularly in the early stages of infection.
  • MBL patients also exhibited a delayed but stronger antibody response compared to non-MBL patients, indicating distinct immune responses in the context of COVID-19.
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Background: Current diagnostic algorithms for systemic mastocytosis (SM) rely on the detection of KITD816V in blood to trigger subsequent bone marrow (BM) investigations.

Methods: Here, we correlated the KITD816V mutational status of paired blood and BM samples from 368 adults diagnosed with mast cell activation syndrome (MCAS) and mastocytosis and determined the potential utility of investigating KITD816V in genomic DNA from blood-purified myeloid cell populations to increase diagnostic sensitivity. In a subset of 69 patients, we further evaluated the kinetics of the KITD816V cell burden during follow-up and its association with disease outcome.

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Background: Mast cells (MC) from systemic mastocytosis (SM) patients release MC mediators that lead to an altered microenvironment with potential consequences on innate immune cells, such as monocytes and dendritic cells (DC). Here we investigated the distribution and functional behaviour of different populations of blood monocytes and DC among distinct diagnostic subtypes of SM.

Methods: Overall, we studied 115 SM patients - 45 bone marrow mastocytosis (BMM), 61 indolent SM (ISM), 9 aggressive SM (ASM)- and 32 healthy donors (HD).

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Article Synopsis
  • Researchers studied 139 healthcare workers with past SARS-CoV-2 infections to investigate heart complications like pericarditis and myocarditis.
  • The study found that 30.9% of participants exhibited signs of heart inflammation, with various immune cell abnormalities noted, including decreased eosinophils and increased cytotoxic T cells.
  • Despite clinical stability, a significant number of participants experienced symptoms and abnormal results in tests like electrocardiograms and cardiac MRI, suggesting ongoing cardiac issues post-infection.*
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Introduction And Objectives: The cardiac sequelae of SARS-CoV-2 infection are still poorly documented. We conducted a cross-sectional study in healthcare workers to report evidence of pericardial and myocardial involvement after SARS-CoV-2 infection.

Methods: We studied 139 healthcare workers with confirmed past SARS-CoV-2 infection.

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Article Synopsis
  • Circulating tumor mast cells (CTMCs) were found in many patients with advanced systemic mastocytosis (SM), particularly in nearly all advanced and smoldering cases, but were absent in those with cutaneous mastocytosis (CM) and mast cell activation syndrome (MCAS).
  • A study involving 214 patients revealed that higher CTMC counts were linked to worse disease features and prognostic scores, indicating more severe disease and shorter survival times.
  • The findings suggest that CTMCs could serve as a new biomarker for advanced SM, indicating a poorer prognosis, especially for patients with indolent SM (ISM).
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Background: Monocyte/macrophages have been shown to be altered in monoclonal gammopathy of undetermined significance (MGUS), smoldering (SMM) and active multiple myeloma (MM), with an impact on the disruption of the homeostasis of the normal bone marrow (BM) microenvironment.

Methods: We investigated the distribution of different subsets of monocytes (Mo) in blood and BM of newly-diagnosed untreated MGUS ( = 23), SMM ( = 14) and MM ( = 99) patients vs. healthy donors (HD; = 107), in parallel to a large panel of cytokines and bone-associated serum biomarkers.

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Background: Several risk stratification models have been proposed in recent years for systemic mastocytosis but have not been directly compared. Here we designed and validated a risk stratification model for progression-free survival (PFS) and overall survival (OS) in systemic mastocytosis on the basis of all currently available prognostic factors, and compared its predictive capacity for patient outcome with that of other risk scores.

Methods: We did a retrospective prognostic modelling study based on patients diagnosed with systemic mastocytosis between March 1, 1983, and Oct 11, 2019.

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