Disease

Hermansky-Pudlak syndrome 21, 2, 3

Gene

AP3B1

Inheritance AR
Current Treatments Hematopoietic Stem Cell Transplantation (HSCT) Bone marrow transplant, granulocyte-colony stimulating factor (G-CSF)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test natural killer cell activity, cytotoxic T lymphocyte activity,4
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Hermansky+Pudlak+Syndrome&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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