Griscelli syndrome, type 2

Defects in RAB27A cause Griscelli syndrome type 2 (GS2). RAB27A regulates the cytotoxic granule exocytosis and affect T-lymphocyte and macrophage-activation. RABD27 encodes protein which is key effector of intracellular vesicular transport. Most patients also develop an uncontrolled T lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation.

Alternative names

GS2

Griscelli syndrome with hemophagocytic syndrome

PAID

Partial albinism with immunodeficiency

Classification

  • Defects of phagocyte function
    • Griscelli syndrome

Inheritance

Autosomal recesseive

OMIM

#607624 Griscelli syndrome, type 2; GS2

604228 Partial albinism and immunodeficiency syndrome

#214450 Griscelli syndrome, type 1; GS1

*603868 Ras-associated protein rab27a; RAB27A

Incidence

Incidence is not known.