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Article

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Journal of clinical immunology - 28 Nov 2024

Maimaris Jesmeen, Roa-Bautista Adriel, Sohail Mahreen, Booth Claire, Cugno Chiara, Chenchara Lenka, Omran Tawfeg Ben, Hacohen Yael, Lim Ming, Gilmour Kimberly, Griffiths Gillian, Rao Kanchan, Elfeky Reem, Kusters Maaike

Abstract excerpt

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles...

Topics

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Albinism
Genetic Association Studies
Hematopoietic Stem Cell Transplantation
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphohistiocytosis, Hemophagocytic

Primary Immunodeficiency Diseases

rab27 GTP-Binding Proteins

Source

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Identifiers

PMID: 39607447
DOI: 10.1007/s10875-024-01842-2
PMCID: PMC11604824

Genes

RAB27A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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