Associated Papers
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.
Rausch J et al.
Frontiers in Immunology, 2025
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Tajik S et al.
Scandinavian Journal of Immunology, 2023
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N et al.
Frontiers in Immunology, 2023
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Lee Y et al.
Annals of Laboratory Medicine, 2022
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Ohishi Y et al.
Frontiers in Immunology, 2020
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
Ammann S et al.
Journal of Clinical Immunology, 2017
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