Griscelli syndrome type 2
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.
MONDO:0015134
constitutional neutropenia
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MONDO:0015541
hereditary hemophagocytic lymphohistiocytosis
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MONDO:0018306
Griscelli syndrome
is_a
GS2
exact
Griscelli syndrome type 2
exact
Griscelli syndrome with hemophagocytic syndrome
exact
Griscelli syndrome, type 2
related
Griscelli-PruniC)ras syndrome type 2
exact
Griscelli-Pruniéras syndrome type 2
exact
Griscelli-Pruni��ras syndrome type 2
exact
PAID syndrome
exact
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
exact
partial albinism and immunodeficiency syndrome
exact