Related references
Note: Only part of the references are listed.Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants
Masataka Ishimura et al.
FRONTIERS IN PEDIATRICS (2019)
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Ivan K. Chinn et al.
BLOOD (2018)
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome
Stephen Opat et al.
BLOOD (2018)
Application of an improved flow cytometry-based NK cell activity assay in adult hemophagocytic lymphohistiocytosis
Jia Zhang et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2017)
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis
Ekchol Mukda et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2017)
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH
Tamar S. Rubin et al.
BLOOD (2017)
Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities
Ellen Brisse et al.
BRITISH JOURNAL OF HAEMATOLOGY (2016)
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism
Petra Netter et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2016)
PEG-aspargase and DEP regimen combination therapy for refractory Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis
Jingshi Wang et al.
JOURNAL OF HEMATOLOGY & ONCOLOGY (2016)
Hemophagocytic lymphohistiocytosis: Pathogenesis, diagnosis, and management
Akira Morimoto et al.
PEDIATRICS INTERNATIONAL (2016)
Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment
Eiichi Ishii
FRONTIERS IN PEDIATRICS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis
Lili Gao et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2015)
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
Kejian Zhang et al.
BLOOD (2014)
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency
S. Ammann et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)
Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders
Yoram Faitelson et al.
CLINICAL IMMUNOLOGY (2014)
Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients withSH2D1AandXIAP/BIRC4Mutations
Carrie E. Gifford et al.
CYTOMETRY PART B-CLINICAL CYTOMETRY (2014)
Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood
Yini Wang et al.
PLOS ONE (2014)
Integrated analysis of germline and somatic variants in ovarian cancer
Krishna L. Kanchi et al.
NATURE COMMUNICATIONS (2014)
Hemophagocytic Lymphohistiocytosis: Advances in Pathophysiology, Diagnosis, and Treatment
Shanmuganathan Chandrakasan et al.
JOURNAL OF PEDIATRICS (2013)
Munc18b/STXBP2 is required for platelet secretion
Rania Al Hawas et al.
BLOOD (2012)
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
Yenan T. Bryceson et al.
BLOOD (2012)
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis
Huang Zhizhuo et al.
PEDIATRIC BLOOD & CANCER (2012)
Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein
Yuuki Murata et al.
BLOOD (2011)
Perforin is a critical physiologic regulator of T-cell activation
Jennifer E. Lykens et al.
BLOOD (2011)
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
Kejian Zhang et al.
BLOOD (2011)
Early and Rapid Detection of X-Linked Lymphoproliferative Syndrome with SH2D1A Mutations by Flow Cytometry
Meina Zhao et al.
CYTOMETRY PART B-CLINICAL CYTOMETRY (2011)
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
Elena Sieni et al.
JOURNAL OF MEDICAL GENETICS (2011)
Comprehensive analyses and characterization of haemophagocytic lymphohistiocytosis in Vietnamese children
Lam T. My et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
Hoi Soo Yoon et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Impact of additional chromosomal aberrations and BCR-ABL kinase domain mutations on the response to nilotinib in Philadelphia chromosome-positive chronic myeloid leukemia
Theo D. Kim et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Establishment of a reference interval for natural killer cell activity through flow cytometry and its clinical application in the diagnosis of hemophagocytic lymphohistiocytosis
H. J. Chung et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2010)
Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes
Kozo Nagai et al.
PLOS ONE (2010)
Viral infections associated with haemophagocytic syndrome
Nadine Rouphael Maakaroun et al.
REVIEWS IN MEDICAL VIROLOGY (2010)
Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
Udo zur Stadt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
A. Trizzino et al.
JOURNAL OF MEDICAL GENETICS (2008)
Nationwide survey of hemophagocytic lymphohistiocytosis in Japan
Eiichi Ishii et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2007)
A MitoTracker Green-based flow cytometric assay for natural killer cell activity: Variability, the influence of platelets and a comparison of analytical approaches
Kay Hopkinson et al.
EXPERIMENTAL HEMATOLOGY (2007)
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
Jan-Inge Henter et al.
PEDIATRIC BLOOD & CANCER (2007)
Flow cytometric cell-mediated cytotoxicity assay
Oner Ozdemir
JOURNAL OF IMMUNOLOGICAL METHODS (2007)
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
Ikuyo Ueda et al.
AMERICAN JOURNAL OF HEMATOLOGY (2007)
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
A. Santoro et al.
JOURNAL OF MEDICAL GENETICS (2006)
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Stephaine Rigaud et al.
NATURE (2006)
In vitro cytotoxicity assays: Comparison of LDH, neutral red, MTT and protein assay in hepatoma cell lines following exposure to cadmium chloride
G Fotakis et al.
TOXICOLOGY LETTERS (2006)
A differential assay of NK-cell-mediated cytotoxicity in K562 cells revealing three sequential membrane impairment steps using three-color flow-cytometry
N Kasatori et al.
JOURNAL OF IMMUNOLOGICAL METHODS (2005)
Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
K Yamamoto et al.
JOURNAL OF MEDICAL GENETICS (2004)
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
K Kogawa et al.
BLOOD (2002)
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
KG Ericson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A novel method for the simultaneous assessment of natural killer cell conjugate formation and cytotoxicity at the single-cell level by multi-parameter flow cytometry
K Godoy-Ramirez et al.
JOURNAL OF IMMUNOLOGICAL METHODS (2000)