Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
about
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosisNovel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosisMolecular study of the perforin gene in familial hematological malignancies.Structural 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 5Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.Perforin-mediated target-cell death and immune homeostasis.Perforin: structure, function, and role in human immunopathology.Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.Modern management of children with haemophagocytic lymphohistiocytosis.Critical role for perforin and Fas-dependent killing of dendritic cells in the control of inflammationPrimary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.Perforin and lymphohistiocytic proliferative disorders.Addressing the mysteries of perforin function.Macrophage activation syndrome and other systemic inflammatory conditions after BMT.Reactive hemophagocytic syndrome complicating the treatment of inflammatory bowel disease.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.What intensivists need to know about hemophagocytic syndrome: an underrecognized cause of death in adult intensive care units.Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.Molecular basis of familial hemophagocytic lymphohistiocytosis.Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis.Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in KoreaSubtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance
P2860
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P2860
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
description
2001 nî lūn-bûn
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2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@ast
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@en
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@nl
type
label
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@ast
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@en
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@nl
prefLabel
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@ast
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@en
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@nl
P2093
P356
P1476
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
@en
P2093
C Danesino
C De Fusco
L D Notarangelo
M Schneider
R Clementi
S Varoitto
U zur Stadt
P356
10.1136/JMG.38.9.643
P407
P577
2001-09-01T00:00:00Z