Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

(2011) E. Sieni et al.   JOURNAL OF MEDICAL GENETICS

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

(2010) M. Meeths et al.   BLOOD

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

(2010) K. Sandrock et al.   BLOOD

Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis

(2010) Q. Ren et al.   BLOOD

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

(2010) R. A. Marsh et al.   BLOOD

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

(2010) R. A. Marsh et al.   BLOOD

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

Molecular basis of familial hemophagocytic lymphohistiocytosis

(2010) V. Cetica et al.   HAEMATOLOGICA

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

(2010) J. Rohr et al.   HAEMATOLOGICA

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

Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy

(2009) Sumit Gupta et al.   Expert Review of Clinical Immunology

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

Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step

(2008) M B Jordan et al.   BONE MARROW TRANSPLANTATION

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

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

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

(2008) A. Santoro et al.   HAEMATOLOGICA