Understanding Mast Cell Activation Disorders
By NIAID
Mast cells, part of the body’s immune system, are packed with inflammatory chemicals that cause allergy symptoms when released. Mast cell activation disorders occur when the cells release too much of their contents.
Joshua Milner and Jonathan Lyons are physician-scientists at NIH’s National Institute of Allergy and Infectious Diseases.
“My lab is very focused on finding answers about allergy by studying patients who have what look like genetic problems with allergy.”
In the course of their work, the scientists had identified a different family with bad allergies and joint problems, including overly flexible joints. Multiple family members had these distinct symptoms, suggesting a genetic disorder.
Interestingly, the scientists found that the affected family members all had a high blood level of tryptase, a marker associated with mast cell activation. It appeared that patients were inheriting tryptase elevations along with their symptoms.
They have since identified other families with inherited mast cell activation disorders.