Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

(2009) Jana Pachlopnik Schmid et al.   EMBO Molecular Medicine

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils

(2008) Cristiana Brochetta et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis

(2008) N Cooper et al.   BONE MARROW TRANSPLANTATION

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

(2008) AnnaCarin Horne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Visceral leishmaniasis associated hemophagocytic lymphohistiocytosis – Case report and systematic review

(2008) Srinivas Rajagopala et al.   JOURNAL OF INFECTION

The role of the initial bone marrow aspirate in the diagnosis of hemophagocytic lymphohistiocytosis

(2008) Abha Gupta et al.   PEDIATRIC BLOOD & CANCER