Griscelli syndrome type 2

MONDO:0011872

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.

Also known as: GS2, Griscelli syndrome type 2, Griscelli syndrome with hemophagocytic syndrome, Griscelli-PruniC)ras syndrome type 2, Griscelli-Pruniéras syndrome type 2, Griscelli-Pruni��ras syndrome type 2, PAID syndrome, hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

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