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

Platelets - 1 Jan 2013

Kurnik Karin, Bartsch Ingrid, Maul-Pavicic Andrea, Ehl Stephan, Sandrock-Lang Kirstin, Bidlingmaier Christoph, Rombach Nina, Busse Anja, Belohradsky Bernd H, Müller-Höcker Josef, Aslanidis Charalampos, Schmitz Gerd, Zieger Barbara

Abstract excerpt

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...

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PMID: 23215637
DOI: 10.3109/09537104.2012.741275

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