Translational studies in allergic reactions and inflammation

National Institute Of Allergy And Infectious Diseases

Investigators

Linked publications & trials

Abstract

In Fiscal Year (FY) 2021, we continued to advance our understanding of acquired and inherited genetic changes that promote mast cell reactivity, anaphylaxis, and allergic inflammation. Foremost among the advances we reported this FY, was a manuscript features in the JACI as an Editor's Choice in which we led an international collaboration demonstrating that hereditary alpha-tryptasemia - a genetic trait first discovered by our laboratory in 2016 - is a heritable risk factor for severe anaphylaxis and modifier of clonal and non-clonal mast cell disorders where it augments symptom frequency and severity. In a second multi-center collaboration led by our group, that was also featured as an Editor's Choice in the JACI, we report unique immunologic changes seen in the gut mucosae of individuals with hereditary alpha-tryptasemia that included evidence of gut barrier disruption and mast cell activation which may contribute to certain clinical phenotypes observed in symptomatic individuals with this trait.