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注意：仅列出部分参考文献，下载原文获取全部文献信息。Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
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AMERICAN JOURNAL OF HUMAN GENETICS (2009)
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Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
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Cutting edge: Syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity
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Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
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Bacteria-associated haemophagocytic syndrome and septic pulmonary embolism caused by Burkholderia cepacia complex in a woman with chronic granulomatous disease
Michi Hisano et al.
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Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d:: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis
Karine Crozat et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2007)
Familial and acquired hemophagocytic lymphohistiocytosis
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HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
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Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
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Perforin-mediated target-cell death and immune homeostasis
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Prolonged course of familial hemophagocytic lymphohistiocytosis
Orna Steinberg et al.
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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
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Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL):: defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease
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Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delt mutation
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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
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Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL)
I Ueda et al.
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Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis:: association with disease-free remissions and haematopoietic malignancies -: art. no. e14
E Rudd et al.
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Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis:: A single-center report of 48 patients
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PEDIATRICS (2006)
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
ML Wei
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Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis
N Cooper et al.
BLOOD (2006)
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
KA Risma et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: Molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
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Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis
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AMERICAN JOURNAL OF HEMATOLOGY (2006)
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people
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A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin
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Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis
A Horne et al.
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SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells
L Dupré et al.
BLOOD (2005)
A proportion of patients with lymphoma may harbor mutations of the perforin gene
R Clementi et al.
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CD56dimCD16neg cells are responsible for natural cytotoxicity against tumor targets
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LEUKEMIA (2005)
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions
E Ishii et al.
BLOOD (2005)
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
Y Tabata et al.
BLOOD (2005)
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
U zur Stadt et al.
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Munc13-4 is an effector of Rab27a and controls secretion of lysosomes in hematopoietic cells
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Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
KE Nichols et al.
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Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis
G Ménasché et al.
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SM Lee et al.
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MB Jordan et al.
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Atypical features of familial hemophagocytic lymphohistiocytosis
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MR Betts et al.
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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
G Ménasché et al.
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Primary hemophagocytic lymphohistiocytosis in Turkish children
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Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan
I Ueda et al.
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Viral infection results in massive CD8+ T cell expansion and mortality in vaccinated perforin-deficient mice
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Evidence of a role for Munc18-2 and microtubules in mast cell granule exocytosis
S Marti-Verdeaux et al.
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Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis
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Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation
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BLOOD (2002)
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
R Clementi et al.
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Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
J Feldmann et al.
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α-CD25 antibody treatment in a child with hemophagocytic lymphohistiocytosis
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Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
N Suga et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH)
U zur Stadt et al.
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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)
Rab27a is required for regulated secretion in cytotoxic T lymphocytes
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Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene
M Arico et al.
BLOOD (2001)
Regulation of antigen-specific CD8+ T cell homeostasis by perforin and interferon-γ
VP Badovinac et al.
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Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma
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JOURNAL OF EXPERIMENTAL MEDICINE (2000)
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
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