Griscelli syndrome type 2

Griscelli syndrome type 2 (GS2) is a rare genetic condition that affects the skin, hair, and immune system. People with this condition typically have light skin and silver-colored hair, and they are at risk for complex immune problems. A serious complication of GS2 is a condition called hemophagocytic lymphohistiocytosis (HLH), which can lead to damage in various organs and tissues. This condition is inherited in an autosomal recessive pattern, meaning it appears when both copies of a gene, in this case the RAB27A gene, have changes.

People with GS2 often show signs of hypopigmentation, which can include lighter skin and silver-colored hair. They also have a higher risk of getting repeated infections due to their weakened immune system. Additionally, the immune condition HLH can cause life-threatening complications by affecting organs throughout the body.

Griscelli syndrome type 2 is caused by mutations in the RAB27A gene. It is inherited in an autosomal recessive manner, which means that a child must inherit a changed copy of the gene from each parent to develop the condition.

The only current treatment shown to extend survival in people with GS2 is stem cell transplantation, also known as a bone marrow transplant. This treatment aims to correct the immune system problems caused by the condition.

Without treatment, most children with GS2 do not survive past early childhood. Early medical intervention, particularly with stem cell transplantation, is critical, although the overall outlook remains challenging due to the potential for life-threatening complications.

Information about current research is currently limited for this condition.