Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

Apr 17, 2021

Just the title of this Japanese article is intimidating, however, the information it contains is valuable. HPS type 2 can exhibit failure of the immune system to protect the body adequately from infection.  Type 2 like all other HPS types has ocular albinism (OCA). This article strongly recommends that when albinism is diagnosed, a white blood cell count should be performed along with other blood studies. As mentioned in previous articles, early detection is key to adequate treatment and to subdue progression of disease.  

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