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Article

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Journal of clinical immunology - 1 Jul 2004

Bizario João C S, Feldmann Jérôme, Castro Fabíola A, Ménasché Gaël, Jacob Cristina M A, Cristofani L, Casella Erasmo B, Voltarelli Júlio C, de Saint-Basile Geneviève, Espreafico Enilza M

Abstract excerpt

Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary...

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Source

Identifiers

PMID: 15163896
DOI: 10.1023/B:JOCI.0000029119.83799.cb

Genes

MLPH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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