Hereditary alpha-tryptasemia demonstrates relative basophil enrichment without signs of cellular hyperreactivity.
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant trait caused by increased tryptase alpha/beta 1 (TPSAB1) copy number, resulting in elevated serum tryptase levels. Although often asymptomatic, HαT is associated with anaphylaxis, flushing, and connective tissue abnormalities. A…
Assessing real-world natural history of indolent systemic mastocytosis: A retrospective matched cohort study.
Indolent systemic mastocytosis (ISM) is the most common form of systemic mastocytosis, accounting for more than 80% of cases. Patients with ISM experience severe, unpredictable symptoms, including potentially life-threatening anaphylaxis. As a chronic condition, understanding its longitudinal natura…
Myeloid neoplasms with mutated KIT: comparative clinicopathologic analysis of D816 vs. non-D816 variants.
KIT mutations are recurrent genetic alterations in myeloid neoplasms (MNs), with the D816 hot-spot variant recognized as a poor prognostic marker in acute myeloid leukemia (AML) with RUNX1::RUNX1T1 and as a diagnostic criterion for systemic mastocytosis (SM). In contrast, the clinical and biological…
CAR T-cells targeting CD117 effectively eliminate mast cells in preclinical models of advanced systemic mastocytosis.
Systemic mastocytosis (SM) is characterized by uncontrolled expansion of neoplastic mast cells (MCs) and their accumulation in various tissues and organs, ranging from indolent variants to more advanced forms (advSM). Although several MC- and SM-expressed cell surface antigens have been identified,…
Mast cells support lung eosinophil homeostasis and the acute innate immune response to respiratory syncytial virus.
As tissue-resident immune cells, mast cells release inflammatory agents in response to local viral infections. Here, we analyze Cpa3-Cre; Mcl-1fl/fl mice, which lack mast cells, to study the consequences of mast cell deficiency during respiratory syncytial virus (RSV) infection. At the early stages…
Systemic IgE promotes allergic rhinitis by licensing Th2-to-Tfh conversion and local IgE production.
Although systemic allergen-specific IgE is an essential biomarker for allergic rhinitis (AR), its mechanistic contribution to symptom development remains unclear. Here, using mouse models, we investigated how systemic antigen-specific IgE influences AR symptoms and local type 2 inflammation. Mice we…
SARS-CoV2 infection significantly increases the risk of cardiovascular events through multiple interconnected mechanisms including systemic inflammation, dysautonomia, endothelial dysfunction, and prothrombotic states. The endothelium plays a critical role in this increase in risk together with dysa…
Indolent Systemic Mastocytosis Presenting with Consecutive Vertebral Fragility Fractures despite Normal Bone Mineral Density: A Case Report and Mechanistic Review.
Indolent systemic mastocytosis (ISM) is a rare clonal mast-cell disorder that may present with skeletal involvement, driven by mast-cell mediator-induced osteoclast activation. Vertebral fragility fractures can occur even in the presence of normal bone mineral density (BMD), making early diagnosis c…