A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

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

(2011) M. Meeths et al.   BLOOD

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

(2011) B. Jessen et al.   BLOOD

pROC: an open-source package for R and S+ to analyze and compare ROC curves

(2011) Xavier Robin et al.   BMC BIOINFORMATICS

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

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

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

(2010) Rachel D. Wheeler et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders

(2010) Theodore S. Johnson et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)

(2010) Christine A. Macartney et al.   PEDIATRIC BLOOD & CANCER

Viral infections associated with haemophagocytic syndrome

(2010) Nadine Rouphael Maakaroun et al.   REVIEWS IN MEDICAL VIROLOGY

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

Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors

(2009) Y. T. Bryceson et al.   BLOOD

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity

(2009) S. M. Wood et al.   BLOOD

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency

(2009) Rebecca A. Marsh et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

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

When T cells and macrophages do not talk: the hemophagocytic syndromes

(2008) Robert J Arceci   CURRENT OPINION IN HEMATOLOGY

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

(2008) A. Santoro et al.   HAEMATOLOGICA