Disease

Griscelli syndrome, type 21, 2

Gene

RAB27A

Inheritance AR
Current Treatments Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test natural killer cell activity, cytotoxic T lymphocyte activity1
Disease Frequency (per 100,000) 23
Genes Included in Disease Frequency PRF1, UNC13D, STX11, STXBP2, RAB27A
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Griscelli+Syndrome&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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