The Functional Basis for Hemophagocytic Lymphohistiocytosis in a Patient with Co-inherited Missense Mutations in the Perforin (PFN1) Gene
I Voskoboinik, MC Thia, A De Bono, K Browne… - The Journal of …, 2004 - rupress.org
About 30% of cases of the autosomal recessive immunodeficiency disorder hemophagocytic
lymphohistiocytosis are believed to be caused by inactivating mutations of the perforin gene …
lymphohistiocytosis are believed to be caused by inactivating mutations of the perforin gene …
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic …
I Voskoboinik, MC Thia, JA Trapani - Blood, 2005 - ashpublications.org
Up to 60% of cases of the autosomal recessive immunodeficiency hemophagocytic
lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this …
lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this …
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
K Kogawa, SM Lee, J Villanueva… - Blood, The Journal …, 2002 - ashpublications.org
Mutations in the perforin gene have been described in some patients with hemophagocytic
lymphohistiocytosis (HLH), but the role of perforin defects in the pathogenesis of HLH …
lymphohistiocytosis (HLH), but the role of perforin defects in the pathogenesis of HLH …
[HTML][HTML] Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
KA Risma, RW Frayer, AH Filipovich… - The Journal of clinical …, 2006 - Am Soc Clin Investig
Missense mutations in perforin, a critical effector of lymphocyte cytotoxicity, lead to a
spectrum of diseases, from familial hemophagocytic lymphohistiocytosis to an increased risk …
spectrum of diseases, from familial hemophagocytic lymphohistiocytosis to an increased risk …
A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin
Mutations in the perforin gene have been found in patients with hemophagocytic
lymphohistiocytosis (HLH), a rare autosomal recessive disease. We describe a patient …
lymphohistiocytosis (HLH), a rare autosomal recessive disease. We describe a patient …
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
J Feldmann, F Le Deist… - British journal of …, 2002 - Wiley Online Library
Familial haemophagocytic lymphohistiocytosis (FHL), an inherited form of haemophagocytic
lymphohistiocytosis (HLH) syndrome, is characterized by the overwhelming activation of T …
lymphohistiocytosis (HLH) syndrome, is characterized by the overwhelming activation of T …
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity
J Feldmann, G Ménasché, I Callebaut, V Minard-Colin… - Blood, 2005 - ashpublications.org
Mutations in the perforin gene cause familial hemophagocytic lymphohistiocytosis (FHL).
The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and …
The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and …
Perforin: more than just an effector molecule
SE Stepp, PA Mathew, M Bennett, G de Saint Basile… - Immunology today, 2000 - cell.com
Perforin: more than just an effector molecule: Immunology Today Skip to Main Content
Advertisement Trends in Immunology This journal offers authors two options (open access or …
Advertisement Trends in Immunology This journal offers authors two options (open access or …
Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function
R Urrea Moreno, J Gil… - Blood, The Journal …, 2009 - ashpublications.org
Perforin-mediated lymphocyte cytotoxicity is critical for pathogen elimination and immune
homeostasis. Perforin disruption of target cell membranes is hypothesized to require binding …
homeostasis. Perforin disruption of target cell membranes is hypothesized to require binding …
Apoptosis induced by the lymphocyte effector molecule perforin
P Bolitho, I Voskoboinik, JA Trapani… - Current opinion in …, 2007 - Elsevier
Recent progress has been made in discovering structure/function relationships of the
cytotoxic lymphocyte pore-forming protein—perforin—and its role in immune regulation …
cytotoxic lymphocyte pore-forming protein—perforin—and its role in immune regulation …
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- hemophagocytic lymphohistiocytosis functional basis
- hemophagocytic lymphohistiocytosis missense mutations
- missense mutations functional basis
- hemophagocytic lymphohistiocytosis perforin expression
- hemophagocytic lymphohistiocytosis cytotoxic lymphocytes
- hemophagocytic lymphohistiocytosis aberrant maturation
- hemophagocytic lymphohistiocytosis clinical diversity