APDS is caused by a rare point mutation in the PIK3CD gene. If you think that your patient has clinical presentation that resembles APDS, sequence analysis would be advisable. We can help you to arrange it.
If you have a collection of samples from a cohort of patients with relevant phenotypes, we could help you to screen these samples for the mutation that causes APDS.
Sergey Nejentsev MD, PhD
Department of Medicine, University of Cambridge
Level 5, Addenbrooke’s Hospital