Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-gene ration sequencing enabled rapid and precise diagnosis of patients with PIRDs.
Source: Immunologic Research - Category: Allergy & Immunology Source Type: research