BLOO7 schreef op 17 januari 2025 12:56:
[...]
Diagnose additional APDS patients
amongst those who have clinical
symptoms and a VUS test result
(>1,200 patients in U.S.)**
Variant curation (ClinGen,
Genomenon)
**To date Pharming has identified more than 1,200 patients in the U.S. with VUSs. As results become available, patients with validated variants could be diagnosed with APDS and be eligible for Joenja® treatment