ArticleJournal of clinical immunology2008
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
Article in Journal of clinical immunology, 2008. 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, 31 citations in OpenAlex.
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Journal of clinical immunology · 2024Article
- Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Journal of clinical immunology · 2024Article
- Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.American journal of clinical and experimental immunology · 2023Article
- Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.Frontiers in immunology · 2020Article
- Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.Journal of clinical immunology · 2018Article
- Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.World journal of pediatrics : WJP · 2017Article
- Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Genome medicine · 2015Article
- Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Cellular and molecular life sciences : CMLS · 2012Review
- Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Molecular genetics and metabolism · 2010Article
- History of primary immunodeficiency diseases in iran.Iranian journal of pediatrics · 2010Article
- Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice.EMBO molecular medicine · 2009Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionGriscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis. MATERIALS AND
methodsWe describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
conclusionThis hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.
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