Associated Papers
Pulmonary Failure as Presentation of Griscelli Syndrome Type 2.
Fogsgaard SF et al.
Pediatric Pulmonology, 2025
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
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.
Grom AA
Advances in Experimental Medicine and Biology, 2024
Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity.
Carvalho DG et al.
Revista Da Sociedade Brasileira De Medicina Tropical, 2023
Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.
Messinger YH et al.
Pediatric Hematology and Oncology, 2021
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.
Schulert GS et al.
The Journal of Infectious Diseases, 2016
A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.
Zhang M et al.
Journal of Immunology (baltimore, Md. : 1950), 2016
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
Genetic defects in cytolysis in macrophage activation syndrome.
Zhang M et al.
Current Rheumatology Reports, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
Ohbayashi N et al.
Pigment Cell & Melanoma Research, 2010
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M et al.
Pediatric Blood & Cancer, 2010
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Westbroek W et al.
Molecular Genetics and Metabolism, 2008
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U et al.
Human Mutation, 2006