Fig. 4. Early CVID diagnosis by PheNet: Sample patient’s timeline.

(A) All CVID-relevant phecodes on a sample patient’s record. The point when the patient received their first immunodeficiency billing code is denoted by the red star. (B) The patient’s IgG laboratory results over time; the first two points were low, and then the patient was started on immunoglobulin replacement therapy. (C) The percentile of the patient’s risk score computed over time. Specifically, we show that the patient reached the 99th percentile of the PheNet score distribution 41 days before their medical record showed evidence of immunodeficiency. Note that the patient’s timeline has been date-shifted. NOS, not otherwise specified.