Griscelli syndrome type-2 (Chediak-Higashi-like syndrome)

Pathology

• uncontrolled T-lymphocyte & macrophage activation (hemophagocytic syndrome)

Genetics

• mutations in rab27a gene

Clinical manifestations

• hypomelanosis
• immunologic impairment
• with or without neurologic impairment
  • in type 2 neurologic disorder likely as a result of hemophagocytic syndrome

Complications

• type 2 patients die without bone marrow transplantation

Management

• type 2: bone marrow transplantation

More general terms

• Griscelli syndrome

Database

• OMIM: https://mirror.omim.org/entry/607624