Background:Griscelli Syndrome type 2 (GS-2) is a rare autosomal recessively inherited severe combined immunodeficiency, characterized by partial albinism with or without hemophagocytic lymphohistiocytosis (HLH). It is caused by mutations in the RAB27A gene resulting in mild neutropenia and markedly decreased NK cell and T cell cytotoxicity. Currently the only curative treatment is hematopoietic stem cell (HSC) transplantation.
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