Publications by authors named "Michael Colpani"
Article Synopsis
- Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a genetic immune disorder caused by mutations in the PI3Kδ gene, leading to increased immune system activation.
- A study of eight Italian patients revealed that recurrent respiratory infections and lymphoproliferative diseases are common, with some resembling severe immune reactions like hemophagocytic lymphohistiocytosis (HLH).
- Treatments included immunoglobulin replacement therapy for six patients and successful hematopoietic stem cell transplantation for one, highlighting the potential for targeted treatments to improve patient outcomes.
