ArticleThe Journal of allergy and clinical immunology2015
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 52 citations in OpenAlex.
- Trial
- Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients.Journal of human immunity · 2026Article
- Noncoding SNP rs17728461 modulates lung cancer progression via interchromosomal regulation of RAB27A expression.Oncogene · 2026Article
- Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Frontiers in immunology · 2026Article
- A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.Case reports in immunology · 2026Article
- Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).Investigative ophthalmology & visual science · 2025Article
- Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.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
- MADD regulates natural killer cell degranulation through Rab27a activation.Journal of cell science · 2024Article
- Spectrum ofJournal of medical genetics · 2024Review
- Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.Journal of clinical immunology · 2024Article
- MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.Blood advances · 2023Article
- Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (Frontiers in immunology · 2023Article
- Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.Journal of clinical immunology · 2022Article
- Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer.Nature communications · 2022Article
- Diagnosis of HLH: two siblings, two distinct genetic causes.Clinical and experimental immunology · 2022Article
- Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.Frontiers in pediatrics · 2022Article
- Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.BMC pediatrics · 2021Article
- Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.Frontiers in genetics · 2021Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed. A number of patients with FHL and normal pigmentation remain without a genetic diagnosis.
objectiveWe asked whether patients with FHL with immunodeficiency but with normal pigmentation might sometimes have mutations that affected cellular cytotoxicity without affecting pigmentation.
methodsWe carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D).
resultsWe identify patients with Griscelli syndrome type 2 with biallelic mutations in RAB27A in the absence of albinism. All 6 patients carried mutations at amino acids R141, Y159, or S163 of Rab27a that disrupt the interaction of Rab27a with Munc13-4, without impairing the interaction between melanophilin and Rab27a.
conclusionThese studies highlight the need for RAB27A sequencing in patients with FHL with normal pigmentation and identify a critical binding site for Munc13-4 on Rab27a, revealing the molecular basis of this interaction.
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