Griscelli syndrome type 2 [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by immune deficiency, hypopigmentation of the skin and hair, and hemophagocytic lymphohistiocytosis resulting in multiple organ failure. Mutations in the RAB27A gene have been identified. OMIM: 607624
Date introduced: August 25, 2010
MeSH Unique ID: C537302
Heading Mapped to:
Entry Terms:
- Griscelli syndrome with hemophagocytic syndrome
- Partial albinism and immunodeficiency
- Albinism, partial with immunodeficiency
- Griscelli Syndrome, Type 2
- Partial Albinism And Immunodeficiency Syndrome
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