The investigators have conducted a pilot study in 40 participants (20 with PID and 20 healthy controls) and shown that a proprietary genomic algorithm can predict patients with 93% accuracy using a leave out one validation approach.

The diagnostic test, called Prim-Dx, generates a risk score for each patient of high, moderate or low and integrates both whole blood gene expression data and a search for genetic mutations known to cause PID.

We plan to further develop the technology by validating the initial observations in a larger clinical trial. The collaborators have received ethics approval to recruit an additional 120 participants (60 PID and 60 healthy controls) and the trial is open for recruitment.

The trial is recruiting adults and children who have been diagnosed with PID. The participating hospitals are the Royal Melbourne Hospital and Royal Children’s Hospital in Melbourne, Victoria

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