Abstract：
:Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) and guanine-to-adenine conversion at nucleotide position 916 (916GAEA). Although primary HLH has been detected in infants and children, genetic mutation of PRF1 or other genes should be considered a differential diagnosis of HLH even in the elderly.
journal_name
Haematologicajournal_title
Haematologicaauthors
Nagafuji K,Nonami A,Kumano T,Kikushige Y,Yoshimoto G,Takenaka K,Shimoda K,Ohga S,Yasukawa M,Horiuchi H,Ishii E,Harada Mdoi
10.3324/haematol.11233subject
Has Abstractpub_date
2007-07-01 00:00:00pages
978-81issue
7eissn
0390-6078issn
1592-8721journal_volume
92pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract：:Imatinib mesylate is a tyrosine kinase inhibitor used as first line treatment in chronic myeloid leukemia and gastrointestinal stromal tumor patients. Although several in vitro and animal studies demonstrated that imatinib affects immune response, few immune alterations are described in humans. We retrospectively stud...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.12642
更新日期：2008-08-01 00:00:00
abstract：BACKGROUND:Phosphatidylserine exposure by red blood cells is acknowledged as a signal that initiates phagocytic removal of the cells from the circulation. Several disorders and conditions are known to induce phosphatidylserine exposure. Removal of phosphatidylserine-exposing red blood cells generally occurs by macropha...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2011.048694
更新日期：2012-04-01 00:00:00
abstract：BACKGROUND:Impaired regulation of hepcidin in response to iron is the cause of genetic hemochromatosis associated with defects of HFE and transferrin receptor 2. However, the role of these proteins in the regulation of hepcidin expression is unclear. DESIGN AND METHODS:Hepcidin expression, SMAD and extracellular signa...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2010.027003
更新日期：2010-11-01 00:00:00
abstract：:A case-control study was conducted among Italian children treated with a stem cell transplant (SCT). Cases (n = 43) were allogeneic recipients with osteonecrosis, and the controls (n = 129) were matched to the corresponding cases on the basis of survival, SCT center and date of transplant. Univariate analysis showed t...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:Specific tumor cell recognition is required for optimal tumor directed therapy. Lymphokine activated killer (LAK) cells are able to recognize tumor targets specifically because LAK cells can distinguish between normal and tumor cells. This study was aimed at analyzing receptor molecules on tumor cells and th...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1993-11-01 00:00:00
abstract：:Daily intravenous arsenic trioxide administered with all-trans retinoid acid, the standard-of-care for acute promyelocytic leukemia, is costly and challenging to administer. ORH-2014 is a novel, oral arsenic trioxide formulation, consisting of micron-size drug particles with rapid dissolution and high bioavailability....
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2019.229583
更新日期：2020-06-01 00:00:00
abstract：:To evaluate the effects of high-dose dexamethasone (HD-DXM) on the balance of interleukin-18 (IL-18) and its endogenous antagonist IL-18 binding protein (IL-18BP) in ITP patients, IL-18, IL-18BP as well as IFN-gamma, IL-4 plasma levels and platelet counts were determined in 17 ITP patients receiving DXM 40 mg/day for ...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2009.007708
更新日期：2009-11-01 00:00:00
abstract：:A new, sensitive method combining seminested polymerase chain reaction (PCR) and heteroduplex analysis was used to detect follicular lymphoma (FL) cells in peripheral blood. Based on the detection of IgH rearrangement in DNA from peripheral blood leukocytes, the method demonstrated the presence of monoclonal B cells i...
journal_title：Haematologica
pub_type： 信件
doi：
更新日期：2004-10-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The role of hematopoietic chimerism after allogeneic stem cell transplantation (SCT) for acute leukemia remains controversial. We studied the relationship between hematopoietic chimerism and several prognostic variables on the outcome of SCT in patients with acute leukemia. DESIGN AND METHODS...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2003-07-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Peripheral blood stem cells (PBSC) following reduced intensity conditioning (RIC) are being increasingly used for allogeneic transplantation in multiple myeloma. The purpose of this study was to compare outcome of patients transplanted with either PBSC or bone marrow (BM) following RIC or myel...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.11353
更新日期：2007-11-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:This study was designed to evaluate the efficacy and toxicity of monthly alternating ABVD/MOPP compared to ABVD/OPP regimens in patients with advanced stage Hodgkin's disease (HD), as well as in early stage patients with systemic symptoms and/or bulky disease. DESIGN AND METHODS:218 patients w...
journal_title：Haematologica
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1998-07-01 00:00:00
abstract：:It is well known that allo-reactive T cells play a crucial role in graft-versus-leukemia and graft-versus-host disease after allogeneic hematopoietic stem cell transplantation (alloSCT). Allo-reactive CD4(+) T cells can mediate direct cytolysis, but may also stimulate production of IgG antibodies as helper cells. Immu...
journal_title：Haematologica
pub_type： 临床试验,杂志文章
doi：10.3324/haematol.2013.086652
更新日期：2014-02-01 00:00:00
abstract：:A pilot study, testing two different chemotherapeutic schedules in CML patients, was carried out in order to verify the possibility of Ph1 clone disappearance. Both therapeutic regimens, though able to induce severe marrow aplasia, determined only a reduction of Ph1 positive metaphases in two patients, while in one ca...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1989-09-01 00:00:00
abstract：:Our preliminary results suggest the existence of quantitative and qualitative differences in immune cells and type1 and type2 cytokines between granulocyte colony-stimulating factor (G-CSF) primed bone marrow (G-BM) and G-CSF-mobilized peripheral blood grafts (G-PB). Our findings suggest that lower T-cell hyporesponsi...
journal_title：Haematologica
pub_type： 信件
doi：
更新日期：2005-05-01 00:00:00
abstract：BACKGROUND:Novel therapies capable of targeting drug resistant clonogenic MM cells are required for more effective treatment of multiple myeloma. This study investigates the cytotoxicity of natural killer cell lines against bulk and clonogenic multiple myeloma and evaluates the tumor burden after NK cell therapy in a b...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2011.054254
更新日期：2012-07-01 00:00:00
abstract：:Our objectives were to evaluate thrombotic complications in patients with lupus anticoagulant fulfilling Sapporo criteria, anticoagulated with an intended INR 2.0-3.0 due to venous and arterial thrombosis. In our series standard anticoagulation was safe and efficacious in preventing recurrences in patients with system...
journal_title：Haematologica
pub_type： 信件
doi：
更新日期：2004-04-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Whether human mesenchymal stem cells (MSC) can be transplanted is controversial and their presence in peripheral blood is not fully accepted. In the present study we have analyzed whether, within the allogeneic transplantation setting, MSC are of host or donor origin. DESIGN AND METHODS:Bone ...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2004-12-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:How to reach the correct diagnosis of a lymph node enlargement is still a problem which strongly challenges the knowledge and experience of the clinician. Organized and specifically oriented literature on the right sequential steps and the logical criteria that should guide this diagnostic appr...
journal_title：Haematologica
pub_type： 杂志文章,评审
doi：
更新日期：1999-03-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The diagnosis of T-cell neoplasia requires the use of immunohistochemistry on tumor sections or molecular genetic analysis of T-cell receptor (TCR) clonality. Multiplex polymerase chain reactions (PCR) offer a sensitive and expeditious approach to determining clonality early in the diagnostic ...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2005-11-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The benefits of high-dose cytarabine, anthracyclines and hematopoietic stem cell transplantation in the treatment of acute myeloid leukemia (AML) are greater in younger rather than in older patients. We assessed the proportion of patients over 60 years with de novo AML who qualified for intens...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2004-07-01 00:00:00
abstract：BACKGROUND:beta-thalassemia occurs from the imbalanced globin chain synthesis due to the absence or inadequate beta-globin chain production. The excessive unbound alpha-globin chains precipitate in erythroid precursors and mature red blood cells leading to ineffective erythropoiesis and hemolysis. DESIGN AND METHODS:I...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2009.005827
更新日期：2009-09-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Rituximab reacts specifically with the CD20 antigen and induces B-cell depletion. This could interfere with the production of autoantibodies in some immune diseases. The objective of this study was to assess the effects of rituximab in autoimmune hemolytic anemia and thrombocytopenia. DESIGN ...
journal_title：Haematologica
pub_type： 临床试验,杂志文章
doi：
更新日期：2002-02-01 00:00:00
abstract：:Phase I/II studies of gemtuzumab ozogamicin (GO) in pediatric refractory/relapsed acute myeloid leukemia (AML) have been reported. We present the cases of two children with relapsed AML who were treated with GO plus cytarabine, leading to a decrease of minimal residual disease down to levels not previously obtained. T...
journal_title：Haematologica
pub_type： 信件
doi：
更新日期：2006-03-01 00:00:00
abstract：:Transient pancytopenia preceding childhood acute lymphoblastic leukemia (ALL) is an unfrequent but well-known event. The association of this preleukemic syndrome with hepatitis is extremely rare, with only two such cases having been published in the literature. We report the case of a 16-year-old boy who was diagnosed...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1998-06-01 00:00:00
abstract：:Pediatric thromboembolism (≤18 years) is very rare (0.07-0.14/10,000/year) but may be more prevalent in children with severe thrombophilia (protein C, protein S or antithrombin deficiency). The aim of this study was to define the prevalence and clinical characteristics of pediatric thrombosis in subjects with inherite...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2018.210666
更新日期：2019-12-01 00:00:00
abstract：:Treatment of adults with acute myeloblastic leukemia has changed substantially over the past two decades. Currently available estimates of survival do not reflect results from present state-of-the-art treatment due to a lag between the availability of new treatments and data concerning their effect on survival on the ...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.12304
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Preclinical studies have highlighted the activity of lenalidomide in mantle cell lymphoma and its anti-proliferative synergy with dexamethasone. DESIGN AND METHODS:In this prospective, multicenter, phase II study, patients with relapsed/refractory mantle cell lymphoma who were not eligible for, or had relap...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：10.3324/haematol.2011.051813
更新日期：2012-03-01 00:00:00
abstract：:Myeloproliferative neoplasms are a varied group of disorders that can have prolonged chronic phases, but eventually accelerate and can transform into a secondary acute myeloid leukemia that is ultimately fatal. Triapine is a novel inhibitor of the M2 subunit of ribonucleotide reductase. Sequential inhibition of ribonu...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2013.097246
更新日期：2014-04-01 00:00:00
abstract：:We conducted a phase 1 study of an anti-CD33 immunotoxin, humanized monoclonal antibody M195 conjugated to recombinant gelonin (HUM-195/rGEL), in patients with relapsed, refractory myeloid leukemias. Twenty-eight patients received the construct intravenously at four dose levels (12, 18, 28 and 40 mg/m(2) per course) i...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2012.071092
更新日期：2013-02-01 00:00:00
abstract：BACKGROUND:Gastrointestinal bleeding is a frequent complication of liver cirrhosis (LC) and represents an important warning sign of imminent death. Platelet dysfunction is an abnormality occurring prevalently in severe liver failure, and could well predispose to bleeding. METHODS:One hundred and two patients with live...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
