Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.

Patients with Hermansky-Pudlak syndrome type 2 (HPS2) present with oculocutaneous albinism, nystagmus, prolonged bleeding time, and increased susceptibility to infections. Twelve HPS2 patients with mutations in the β3A-subunit of the cytosolic adaptor-related protein complex 3 (AP3B1, also called HPS2) have been described so far. Here, we report on a patient with oculocutaneous albinism who developed a life-threatening bleeding after tonsillectomy.