The number of reported cases of HPS-2 is small in comparison to HPS more generally.



Further reading about HPS-2


  1. Wenham, M., et al (2010).  Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.  Haematological, 2010: 95 (2).


  1. Enders, A., et al (2006).  Lethal haemophagocytic lymphohistocytosis in Hermansky-Pudlak syndrome type II.  Blood; 1 July 2006: Vol 108, No. 1.


  1. Huizing, M., et al. (2002).  Nonsense Mutations in AP3B3A Cause Complete Deficiency of the 3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2.  Pediatric Research (2002) 51, No. 2, 150–158.

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HPS-2 & Immuno-deficiency