MeSH Browser

MeSH Supplementary: Griscelli syndrome type 2
Unique ID: C537302
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537302
Entry Term(s): Albinism, partial with immunodeficiency; Griscelli Syndrome, Type 2; Griscelli syndrome with hemophagocytic syndrome; Partial Albinism And Immunodeficiency Syndrome; Partial albinism and immunodeficiency
Previous Indexing: IMMUNOLOGIC DEFICIENCY SYNDROMES (2013-2019)
Heading Mapped to: *Piebaldism; *Lymphohistiocytosis, Hemophagocytic; *Primary Immunodeficiency Diseases
Frequency: 55
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/17

Griscelli syndrome type 2 MeSH Supplementary Concept Data 2024