Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding

Autosomal recessive mutations in RAB27A are associated with Griscelli syndrome type 2 (GS2), characterized by hypopigmentation and development of early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). We describe a 35-year old male who presented with recurrent fever, was diagnosed...

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Detalles Bibliográficos
Autores principales: Zondag, Timo C. E., Torralba-Raga, Lamberto, Van Laar, Jan A. M., Hermans, Maud A. W., Bouman, Arjen, Hollink, Iris H. I. M., Van Hagen, P. Martin, Briggs, Deborah A., Hume, Alistair N., Bryceson, Yenan T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700621/
https://www.ncbi.nlm.nih.gov/pubmed/35870028
http://dx.doi.org/10.1007/s10875-022-01315-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700621/
https://www.ncbi.nlm.nih.gov/pubmed/35870028
http://dx.doi.org/10.1007/s10875-022-01315-4

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