Hermansky-Pudlak syndrome/beta 3A adaptin mutation (Hermansky-Pudlak syndrome-2)

Pathology

• see Hermansky-Pudlak syndrome

Genetics

• mutation in AP3B1 gene

Clinical manifestations

• differs from the other forms of Hermansky-Pudlak syndrome
  • includes immunodeficiency
  • patients have an increased susceptibility to infections

More general terms

• Hermansky-Pudlak syndrome

Database

• OMIM: https://mirror.omim.org/entry/603401
• OMIM: https://mirror.omim.org/entry/608233
• OMIM: https://mirror.omim.org/entry/203300