A Trizzino, U Stadt, I Ueda, K Risma, G Janka, … - British Medical Journal, 2008 - jmg.bmj.com Results: The 124 patients had 63 different mutations (including 15 novel
mutations): 11 nonsense, 10 frameshift, 38 missense and 4 in-frame deletions.
Some mutations were found more commonly: 1122 G A (W374X), associated with ... Cited by 13 - Related articles - BL Direct - All 3 versions
SM Lee, J Sumegi, J Villanueva, Y Tabata, K … - The Journal of pediatrics, 2006 - Elsevier Mutations of the perforin gene (PRF1) are present in a proportion of patients
with hemophagocytic lymphohistiocytosis (HLH). We found that all identified
infants with HLH of African descent (17 from USA, 4 from Europe) have ... Cited by 7 - Related articles - All 9 versions
K Zhang, JA Johnson, J Biroschak, J … - International Journal of Immunogenetics, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 3 - Related articles - BL Direct - All 3 versions
I Ueda, Y Kurokawa, K Koike, S Ito, A Sakata, … - American journal of hematology, 2007 - interscience.wiley.com Since the discovery of perforin gene mutations in familial hemophagocytic
lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have
been identified in a report of Feldmann et al. as the beginning. This study ... Cited by 14 - Related articles - BL Direct - All 3 versions
A Santoro, S Cannella, G Bossi, F Gallo, A … - British Medical Journal, 2006 - jmg.bmj.com Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically
heterogeneous disorder characterised by constitutive defects in cellular
cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the ... Cited by 22 - Related articles - BL Direct - All 4 versions
- ►hematologylibrary.org I Voskoboinik, VR Sutton, A Ciccone, CM … - Blood, 2007 - bloodjournal.hematologylibrary.org Perforin (PRF), a pore-forming protein expressed in cytotoxic lymphocytes, plays
a key role in immune surveillance and immune homeostasis. The A91V substitution
has a prevalence of 8% to 9% in population studies. While this variant has ... Cited by 9 - Related articles - BL Direct - All 2 versions
- ►nih.gov KA Risma, RW Frayer, AH Filipovich, J … - Journal of Clinical Investigation, 2005 - 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 of tumorigenesis. Understanding of the impact of ... Cited by 38 - Related articles - BL Direct - All 10 versions
M Aricò - International Society of Paediatric Oncology, 2002 - Citeseer 74 Hemophagocytic lymphohistiocytosis A challenge for the pediatric
hematologist- oncologist Maurizio Aricò Hemophagocytic lymphohistiocytosis
(HLH) is a genetically heterogeneous disorder characterized by an hyper- ... Related articles - View as HTML - All 3 versions
P Age, WBC Sex - haematologica, 2005 - haematologica-thj.org Perforin plays a pivotal role in the cytotoxicity of natu- ral killer (NK) and
cytotoxic T lymphocytes (CTL). Perforin gene (PRF1) mutations have been
associated with familial hemophagocytic lymphohistiocytosis (FHL, HLH).1 ... Cited by 18 - Related articles - View as HTML - All 12 versions
SS Metkar, B Wang, CJ Froelich - Journal of immunological methods, 2005 - Elsevier How perforin (PFN) delivers the granzymes during cytotoxic granule mediated
apoptosis remains a mystery. A major obstacle has been the inability to
visualize PFN in either monomeric or polymeric form after interaction with ... Cited by 3 - Related articles - All 3 versions
