Nizar Mahlaoui

Shapley Regression for Rare Disease Diagnosis Support: A Case Study on APDS

Activated PI3Kδ Syndrome (APDS) is a rare genetic immune disorder caused by variants in PIK3CD or PIK3R1, with highly heterogeneous symptoms that often delay diagnosis. Early recognition is hampered by overlapping clinical presentations and limited clinician awareness, motivating systematic, data-dr