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Griscelli syndrome type-2 (Chediak-Higashi-like syndrome)
Pathology:
- uncontrolled T-lymphocyte & macrophage activation (hemophagocytic syndrome)
Genetics:
- mutations in rab27a gene
Clinical manifestations:
1) hypomelanosis
2) immunologic impairment
3) 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
General
Griscelli syndrome
Database Correlations
OMIM 607624
References
OMIM :accession 607624