Griscelli syndrome type 2

Disease Overview

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.[10270] GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner.[10270][10272] The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant).[10271] Untreated, most children with GS2 do not survive past early childhood.[10272]

Synonyms

• GS2
• Griscelli syndrome with hemophagocytic syndrome
• Partial albinism and immunodeficiency syndrome
• PAID syndrome
• Griscelli-Pruniéras syndrome type 2
• Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome