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:

• Primary Immunodeficiency Diseases
• Piebaldism
• Lymphohistiocytosis, Hemophagocytic

Entry Terms:

• Partial Albinism And Immunodeficiency Syndrome
• Albinism, partial with immunodeficiency
• Griscelli Syndrome, Type 2
• Griscelli syndrome with hemophagocytic syndrome
• Partial albinism and immunodeficiency

Previous Indexing:

• IMMUNOLOGIC DEFICIENCY SYNDROMES (2013-2019)