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Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life- threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.
Source: GARD Last updated on 05-01-20
Bone marrow transplantation is the most effective treatment and the only possible cure for Griscelli syndrome type 2 (GS2). Immunosuppressive therapies may be used in preparation for transplantation, and to suppress damage to multiple organs caused by hemophagocytic lymphohistiocystosis. Recurrent infections may be minimized with antibacterial and antiviral medications. In addition, avoiding interactions that increase the risk of infection is important.
Last updated on 05-01-20
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