Abstract
Since the early identification of specific pathogenic variants in genes encoding Bruton's tyrosine kinase (BTK), Wiskott Aldrich syndrome protein, and the gamma chain of the interlukin-2 receptor (IL-2RG), 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 discoveries being reported each year.1 Before the widespread availability of genetic testing, diagnosis of PIDD relied on assays that provide evidence of immune dysfunction, but are not typically themselves diagnostic and have various limitations.
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