Serum baseline tryptase levels across chronic kidney disease stages: A retrospective report.
Chronic kidney disease (CKD) has been associated with elevated serum baseline tryptase (sBT) levels, which may exceed the standard reference value of less than 11.5 ng/mL as kidney function declines. This study aimed to characterize sBT levels across different CKD stages in a United States-based coh…
SuperRCA assay of KIT p.D816V mutation load reveals novel correlation to clinical phenotype.
The KIT p.D816V mutation is seen in more than 90% of patients with systemic mastocytosis (SM). A high variant allele fraction (VAF) is associated with adverse outcome; however, no correlations betwen mutation burden and clinical symptoms have hitherto been established. Our aim was to quantify KIT p.…
Generation of a novel knock-in mouse line expressing oncogenic Kit D814V in the hematopoietic stem cell compartment as a preclinical model for systemic mastocytosis.
Research in mastocytosis, characterized by clonal expansion of mast cells (MC), and driven by the KIT D816V mutation in >90% of patients, has been hampered by the lack of in vivo models. Here, we describe a novel knock-in mouse line expressing Kit D814V (murine homolog to human KIT D816V) in the hem…
Predicting the clinical course of advanced systemic mastocytosis on treatment with avapritinib or midostaurin.
Advanced systemic mastocytosis (AdvSM) is driven by KIT D816V in approximately 95% of cases. Accurate assessment and prediction of clinical course and disease outcome before and during treatment with the KIT inhibitors midostaurin and avapritinib may facilitate optimization of treatment strategies.…
Tryptase Locus Variation Contributes to Normal-Range Basal Serum Tryptase Variability and Is Associated With Anaphylaxis.
Increased basal serum tryptase level (BST) is associated with anaphylaxis. In the absence of clonal mast cell disease and hereditary α-tryptasemia (HαT), the contribution of the tryptase locus variation to BST and anaphylaxis remains undefined. To determine the impact of tryptase locus v…
Chronic Spontaneous Urticaria and Psychiatric Symptoms: The Blood-Brain Barrier Hypothesis.
Chronic spontaneous urticaria (CSU) is a mast cell-driven inflammatory disease frequently accompanied by anxiety, depression, sleep disturbance, fatigue, and impaired quality of life. Pruritus, disturbed sleep, psychosocial burden, and treatment-related effects are established contributors to this n…
More Than Just a Gut Feeling: Unmasking Systemic Mastocytosis Behind Chronic Gastrointestinal Symptoms in a 2-Patient Case Series.
Systemic mastocytosis is a rare clonal mast-cell disorder whose gastrointestinal manifestations may mimic common diseases and delay diagnosis. We present 2 women with longstanding gastrointestinal symptoms, including 1 treated for Crohn's disease for more than 15 years. Gastrointestinal biopsies dem…