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.  

Read more:  https://pubmed.ncbi.nlm.nih.gov/31820501/

Flavia's Journal Club