Practical Approach to Genetic Testing for Primary Immunodeficiencies

Since the early identification of specific pathogenic variants in genes encoding Bruton ’s tyrosine kinase (BTK), Wiskott Aldrich syndrome protein (WASp) and the gamma chain of the interlukin-2 receptor (IL2RG), the evolution of DNA sequencing technologies has led to the identification of variants in over 350 genes causing Primary Immune Deficiency Disorders (PIDD), with new discover ies being reported each year.1 Prior to the widespread availability of genetic testing, diagnosis of PIDD relied upon assays that provide evidence of immune dysfunction, but are not typically themselves diagnostic and have various limitations.

Source: Annals of Allergy, Asthma and Immunology - August 27, 2019 Category: Allergy & Immunology Authors: Javier Chinen, Monica Lawrence, Morna Dorsey, Lisa J. Kobrynski Source Type: research