ArticleJournal of clinical immunology2004
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.
Article in Journal of clinical immunology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 54 citations in OpenAlex.
- Specialised features of melanosomes in health and disease in the retinal pigment epithelium.Frontiers in cell and developmental biology · 2025Review
- Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Journal of clinical immunology · 2024Article
- Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients.Current medical science · 2021Article
- Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.Medicina (Kaunas, Lithuania) · 2019Article
- "Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.Skin appendage disorders · 2017Article
- Rab27A regulates transport of cell surface receptors modulating multinucleation and lysosome-related organelles in osteoclasts.Scientific reports · 2015Article
- Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.PloS one · 2014Article
- Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.Orphanet journal of rare diseases · 2013Review
- Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Molecular genetics and metabolism · 2010Article
- Natural killer cell cytotoxicity: how do they pull the trigger?Immunology · 2009Review
- Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.Journal of clinical immunology · 2008Article
- A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.Molecular genetics and metabolism · 2008Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes.
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