Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Inherited defects in lymphocyte cytotoxic activity

(2015) Jana P. Schmid et al.   IMMUNOLOGICAL REVIEWS

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

(2012) Y. T. Bryceson et al.   BLOOD

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

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

Molecular Pathogenesis of EBV Susceptibility in XLP as Revealed by Analysis of Female Carriers with Heterozygous Expression of SAP

(2011) Umaimainthan Palendira et al.   PLOS BIOLOGY

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

X-linked lymphoproliferative syndromes: brothers or distant cousins?

(2010) A. H. Filipovich 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

Contemporary perspectives on the pathophysiology of Meniereʼs disease: implications for treatment

(2010) Maroun T Semaan et al.   Current Opinion in Otolaryngology & Head and Neck Surgery

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

(2010) J. Rohr et al.   HAEMATOLOGICA

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

(2010) V. Cetica et al.   JOURNAL OF MEDICAL GENETICS

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

(2010) Kozo Nagai et al.   PLoS One

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

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

Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin

(2009) Karin Beutel et al.   PEDIATRIC BLOOD & CANCER

Hemophagocytic lymphohistiocytosis (HLH) and related disorders

(2009) A. H. Filipovich   Hematology-American Society of Hematology Education Program

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

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

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

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