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

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

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

(2009) S. M. Wood et al.   BLOOD

Primary immunodeficiencies: increasing market share

(2009) Luigi D Notarangelo et al.   CURRENT OPINION IN IMMUNOLOGY

Perforin deficiency attenuates inflammation and tumor growth in colitis-associated cancer

(2009) Maximilian J. Waldner et al.   INFLAMMATORY BOWEL DISEASES

Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes

(2009) Shradha Agarwal et al.   JOURNAL OF ALLERGY AND 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

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

(2009) Andrew M. Smith et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

(2009) J. Chia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Inherited traits affecting platelet function

(2008) Isabelle I. Salles et al.   BLOOD REVIEWS

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

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

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH)

(2008) Jana Pachlopnik Schmid et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

SAP-controlled T–B cell interactions underlie germinal centre formation

(2008) Hai Qi et al.   NATURE

The Rab27a Effectors JFC1/Slp1 and Munc13-4 Regulate Exocytosis of Neutrophil Granules

(2008) Agnieszka A. Brzezinska et al.   TRAFFIC