Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

(2014) K. Zhang et al.   BLOOD

Syntaxin binding mechanism and disease-causing mutations in Munc18-2

(2013) Y. Hackmann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2012) J. Pagel et al.   BLOOD

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

(2011) K. Zhang et al.   BLOOD

Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States

(2011) J. I. Cohen et al.   BLOOD

The expanding spectrum of hemophagocytic lymphohistiocytosis

(2011) Alexandra H. Filipovich   Current Opinion in Allergy and Clinical Immunology

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

(2010) M. Meeths et al.   BLOOD

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

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

EPSTEIN-BARR VIRUS LOAD IN CEREBROSPINAL FLUID OF PATIENTS WITH CHRONIC ACTIVE EPSTEIN-BARR VIRUS INFECTION

(2008) Shouichi Ohga et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL