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A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis

โœ Scribed by Hyun Woo Goo; Young Cheol Weon

Publisher
Springer-Verlag
Year
2007
Tongue
English
Weight
578 KB
Volume
37
Category
Article
ISSN
0301-0449

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Mutation spectrum in children with prima
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
โœ Udo Zur Stadt; Karin Beutel; Susanne Kolberg; Reinhard Schneppenheim; Hartmut Ka ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 213 KB

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal-recessive disease that affects young children. It presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Mutations in the perforin 1 gene (PRF1) were found in FHL-2 in 15-50% of all cases. Defect