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Article

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

American journal of medical genetics. Part A - 1 Aug 2026

Papingi Dzhoy, Kutsche Michael, Lichtenfeld Helena, Kortüm Fanny, Abicht Angela, Herrmann Laura, Herget Theresia

Abstract excerpt

Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal outcomes within the first decade of life. Adult-onset GS2 is extremely...

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Source

Identifiers

PMID: 41851022
DOI: 10.1002/ajmg.a.70140

Genes

RAB27A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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