Hermansky-Pudlak syndrome 10

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene disrupts AP‑3–dependent trafficking to lysosome‑related organelles, including melanosomes and platelet dense granules. Alongside oculocutaneous albinism and a platelet‑type bleeding diathesis, affected individuals develop early‑onset immunodeficiency and severe neurologic impairment (e.g., profound developmental delay and refractory seizures). Additional findings can include interstitial lung disease and hepatosplenomegaly.