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
✦ LIBER ✦
Novel Syntaxin 11 Gene (STX11) Mutation in Three Argentinean Patients with Hemophagocytic Lymphohistiocytosis
✍ Scribed by Silvia Danielian; Natalia Basile; Carlos Rocco; Emma Prieto; Jorge Rossi; Darío Barsotti; Paul A. Roche; Andrea Bernasconi; Matías Oleastro; Marta Zelazko; Jorge Braier
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 206 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0271-9142
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