Discovery of previously unknown immunodeficiency
Tuesday, February 19, 2013 - 10:30
in Biology & Nature
Severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID) – this has now been demonstrated in a 13-year-old patient. A previously unknown B-cell defect was identified in the teenager with the aid of so-called "next generation sequencing", with which genetic mutations in the genetic material can be detected within a few days.