Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
about
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesisCancers Related to Immunodeficiencies: Update and PerspectivesStructural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Managing cytokine release syndrome associated with novel T cell-engaging therapies.Perforin gene mutations in 77 Chinese patients with lymphomas.Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthoodToxicity management for patients receiving novel T-cell engaging therapies.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesFamilial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic functionPerforin deficiency and susceptibility to cancer.Perforin: structure, function, and role in human immunopathology.Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice.Role of perforin-mediated cell apoptosis in murine models of infusion-induced bone marrow failure.Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis.Advances in understanding the pathogenesis of HLH.Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.Cytokine release syndrome after blinatumomab treatment related to abnormal macrophage activation and ameliorated with cytokine-directed therapy.Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.Molecular basis of familial hemophagocytic lymphohistiocytosis.Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis.Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
P2860
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P2860
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@ast
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@en
type
label
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@ast
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@en
prefLabel
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@ast
Genotype-phenotype study of fa ...... sis due to perforin mutations.
@en
P2093
P356
P1476
Genotype-phenotype study of fa ...... osis due to perforin mutations
@en
P2093
A Filipovich
A Trizzino
G Griffiths
Histiocyte Society HLH Study group
P356
10.1136/JMG.2007.052670
P407
P577
2007-09-14T00:00:00Z