Abstract:
:Congenital thrombocytopenia may occur in isolation or accompanied by eczema and immunodeficiency, as part of the X-linked hereditary Wiskott-Aldrich syndrome (WAS). Because the clinical and immunologic picture of WAS is variable, particularly early in life, definite diagnosis cannot always be made in cases with a negative family history. Two unrelated males with sporadic congenital thrombocytopenia had only questionable immunologic abnormalities as infants, making them clinically indistinguishable from cases of isolated thrombocytopenia, although one developed episodic neutropenia and the other began to manifest a multisystem autoimmune disease at 2 years of age. Evaluation of X chromosome inactivation in the T cells of both patients' mothers showed each of these women to have the same highly skewed X chromosome inactivation pattern seen in carriers of typical familial WAS. A T-cell defect was subsequently directly demonstrated in the second patient, whose lymphocytes failed to proliferate to periodate and anti-CD43. Taken together, these data suggest the presence of T cell immunodeficiency consistent with WAS in these patients. Furthermore, their mothers were found to have a very high likelihood of being carriers, lending support to the diagnosis of a hereditary disease in these boys and making possible genetic prediction in other family members and subsequent pregnancies.
journal_name
Bloodjournal_title
Bloodauthors
Puck JM,Siminovitch KA,Poncz M,Greenberg CR,Rottem M,Conley MEsubject
Has Abstractpub_date
1990-06-15 00:00:00pages
2369-74issue
12eissn
0006-4971issn
1528-0020journal_volume
75pub_type
杂志文章相关文献
BLOOD文献大全abstract::We conducted a double-blind, randomized multicenter trial to determine whether the addition of mycophenolate mofetil (MMF) improves the efficacy of initial systemic treatment of chronic graft-versus-host disease (GVHD). The primary endpoint was resolution of chronic GVHD and withdrawal of all systemic treatment within...
journal_title:Blood
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1182/blood-2009-02-202937
更新日期:2009-05-21 00:00:00
abstract::The bone and immune systems are closely related through cellular and molecular interactions. Because bone-resorbing osteoclasts (OCs) are derived from the monocyte/macrophage lineage, similar to dendritic cells (DCs), we hypothesized that OCs could serve as antigen-presenting cells (APCs) to activate T cells. In this ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-11-255026
更新日期:2010-07-15 00:00:00
abstract::Idiopathic pneumonia syndrome (IPS) is a major complication after allogeneic bone marrow transplantation (allo-BMT) and involves the infiltration of donor leukocytes and the secretion of inflammatory cytokines. We hypothesized that leukocyte recruitment during IPS is dependent in part upon interactions between chemoki...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-08-2708
更新日期:2004-03-15 00:00:00
abstract::The EEN (extra eleven nineteen) gene, located on chromosome 19p13, was cloned as a fusion with MLL from a patient with acute myeloid leukemia (AML) with translocation t(11;19)(q23;p13). In this study, we characterized the genomic structure of the EEN gene, including its 5' regulatory region and transcription start sit...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-02-003517
更新日期:2007-01-15 00:00:00
abstract::The expression and function of a glycoprotein Ib (GPIb) complex on human umbilical vein endothelial cells (HUVECs) is still a matter of controversy. We characterized HUVEC GPIb using viper venom proteins: alboaggregins A and B, echicetin, botrocetin, and echistatin. Echicetin is an antagonist, and alboaggregins act as...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-04-15 00:00:00
abstract::The purpose of this study was to characterize the stimulus that activates the 5-lipoxygenase pathway in human peripheral monocytes (PM) during the process of contact activation. Incubation of PM, but not of polymorphonuclear leukocytes (PMN), in contact-activated, recalcified plasma induced a time-dependent release of...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::Lymphomas in 10 cynomolgus monkeys infected with a simian immunodeficiency virus (SIVsm) were studied with regard to proliferative activity and apoptosis-related gene expression. All were diffuse large-cell lymphomas, showed mono or oligoclonality and a 9/10 diploid cellular DNA content. Expression of a simian homolog...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-02-15 00:00:00
abstract::Quantitative studies of bone marrow neutrophil pool sizes and production rates and of blood neutrophil kinetics were performed in 16 patients with chronic neutropenia without splenomegaly. Marrow netrophil cellularity was determined from a ferrokinetic estimate of marrow normoblasts and from neutrophil-erythroid ratio...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1979-09-01 00:00:00
abstract::Hematopoietic reconstitution following syngeneic bone marrow transplantation with graded doses of untreated and drug-treated bone marrow was studied in B6D2F1 mice. Granulocyte-macrophage colony-forming units (CFU-GM) and spleen colony-forming units (CFU-S) showed similar in vitro drug sensitivities. Both the speed of...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00
abstract::Tumor cells from six patients with immunoglobulin G (IgG) multiple myeloma were analyzed for surface antigens, cytoplasmic paraprotein, morphology, and response to various culture conditions. The tumor marker was the paraprotein idiotype. Low numbers of tumor cells were found in the blood of most of the patients. In s...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-05-15 00:00:00
abstract::Recent studies suggest that the evolutionary history of a cancer is important in forecasting clinical outlook. To gain insight into the clonal dynamics of multiple myeloma (MM) and its possible influence on patient outcomes, we analyzed whole exome sequencing tumor data for 333 patients from Myeloma XI, a UK phase 3 t...
journal_title:Blood
pub_type: 杂志文章,随机对照试验
doi:10.1182/blood-2016-11-750612
更新日期:2017-10-05 00:00:00
abstract::Cutaneous T-cell lymphoma (CTCL) constitutes a malignant proliferative disease involving mostly CD4(+) T cells arising in the skin. Because of the lack of curative treatment options, interferons (IFN) have been introduced into the therapy of CTCL. Although effective even in advanced disease, response rates were about ...
journal_title:Blood
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:1998-11-15 00:00:00
abstract::Allogeneic stem cell transplantation (SCT) is an established therapy for patients with relapsed lymphoma, but the role of positron emission tomography (PET) scanning preallogeneic and postallogeneic SCT is uncertain. We investigated whether pretransplantation PET status predicted outcome after allogeneic SCT and wheth...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-11-255182
更新日期:2010-04-08 00:00:00
abstract::Human platelets are anucleate blood cells that retain cytoplasmic mRNA and maintain functionally intact protein translational capabilities. We have adapted complementary techniques of microarray and serial analysis of gene expression (SAGE) for genetic profiling of highly purified human blood platelets. Microarray ana...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-09-2797
更新日期:2003-03-15 00:00:00
abstract::Circulating endothelial progenitor cells (EPCs) are thought to contribute to angiogenesis following vascular injury, stimulating interest in their ability to mediate therapeutic angiogenesis. However, the number of EPCs in the blood is low, limiting endogenous repair, and a method to rapidly mobilize EPCs has not been...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2006-06-030577
更新日期:2006-12-01 00:00:00
abstract::We previously reported the inhibitory action of interleukin-6 (IL-6) on B lymphopoiesis with SHIP(-/-) mice and showed that IL-6 biases lineage commitment toward myeloid cell fates in vitro and in vivo. Because elevated IL-6 is a feature of chronic inflammatory diseases, we applied an animal model of systemic lupus er...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-12-192559
更新日期:2009-05-07 00:00:00
abstract::Signaling mediated by various Notch receptors and their ligands regulates diverse biological processes, including lymphoid cell fate decisions. Notch1 is required during T-cell development, while Notch2 and the Notch ligand Delta-like1 control marginal zone B (MZB) cell development. We previously determined that Maste...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-06-097030
更新日期:2007-11-15 00:00:00
abstract::Autoimmune hemolytic anemia (AIHA) is a disease in which autoantibodies against red blood cells (RBCs) lead to their premature destruction. Most clinically significant autoantibodies are of the immunoglobulin G (IgG) type, which leads primarily to the uptake and destruction of RBCs by splenic and hepatic macrophages. ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2001-11-0061
更新日期:2003-01-15 00:00:00
abstract::Primary myelofibrosis (PMF) is the most serious myeloproliferative disorder, characterized by clonal myeloproliferation associated with cytokine-mediated bone marrow stromal reaction including fibrosis and osteosclerosis. Current drug therapy remains mainly palliative. Because the NF-kappaB pathway is implicated in th...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-10-054502
更新日期:2007-07-01 00:00:00
abstract::The heterodimeric transcription factor RUNX1/PEBP2-beta (also known as AML1/CBF-beta) is essential for definitive hematopoiesis. Here, we show that interaction with PEBP2-beta leads to the phosphorylation of RUNX1, which in turn induces p300 phosphorylation. This is mediated by homeodomain interacting kinase 2 (HIPK2)...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-01-134122
更新日期:2008-11-01 00:00:00
abstract::The malignant Reed-Sternberg cell of Hodgkin disease is an aberrant B cell that persists in an immunolgically mediated inflammatory infiltrate. Despite its nonproductive immunoglobulin genes, the Reed-Sternberg cell avoids the usual apoptotic fate of defective immune cells through an unknown mechanism. A likely candid...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:2000-10-15 00:00:00
abstract::Administration of lymphodepletion chemotherapy followed by CD19-specific chimeric antigen receptor (CAR)-modified T cells is a remarkably effective approach to treating patients with relapsed and refractory CD19(+) B-cell malignancies. We treated 7 patients with B-cell acute lymphoblastic leukemia (B-ALL) harboring re...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2015-08-665547
更新日期:2016-05-19 00:00:00
abstract::Primary cutaneous lymphomas have been successfully treated with interferons (IFNs), counterbalancing the T-helper 2 (Th2)-skewing state. We undertook a phase 1, open-label, dose-escalating trial of repeated intratumoral administration of TG1042 in patients with advanced primary cutaneous T-cell lymphomas (CTCLs) and m...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2004-01-0360
更新日期:2004-09-15 00:00:00
abstract::The role of hematopoietic growth factors in lineage commitment and differentiation is unclear. We present evidence that heterologous expression of an erythroid specific receptor allows granulocytic differentiation of a myeloid cell line. We have previously characterized a truncation mutant of the erythropoietin recept...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-08-15 00:00:00
abstract::Macrophage mannose receptor (MR) participates in pathogen recognition, clearance of endogenous serum glycoproteins, and antigen presentation. MR is also present on lymphatic vessels, where its function is unknown. Here we show that migration of lymphocytes from the skin into the draining lymph nodes through the affere...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-10-118984
更新日期:2008-07-01 00:00:00
abstract::Endothelial cells play an important role in the regulation of fibrinolysis by the production of several key regulatory proteins. The cytokines tumor necrosis factor (TNF), lymphotoxin, and interleukin-1 (IL-1), but not interleukin-6, increase the production of plasminogen activator inhibitor-1 (PAI-1) by endothelial c...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1990-05-15 00:00:00
abstract::The clinical hallmark of paroxysmal nocturnal hemoglobinuria (PNH) is chronic intravascular hemolysis that is a consequence of unregulated activation of the alternative pathway of complement (APC). Intravascular hemolysis can be inhibited in patients by treatment with eculizumab, a monoclonal antibody that binds compl...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-09-244285
更新日期:2010-03-18 00:00:00
abstract::The receptor for hyaluronic acid-mediated motility (RHAMM/CD168) has been described as a leukemia-associated antigen. To define T-cell epitopes of RHAMM/CD168 toward specific immunotherapies for acute myeloid leukemia (AML), 10 potential HLA-A2-binding RHAMM/CD168 peptides (R1 to R10) were synthesized based on compute...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-12-4787
更新日期:2005-08-01 00:00:00
abstract::Interleukin-1 (IL-1) has been shown to ameliorate the hematopoietic toxicities of antitumor chemotherapeutic agents in both mice and humans. However, IL-1 toxicity in humans is considerable and is similar to the systemic inflammatory toxicities induced by IL-3, IL-6, and other cytokines with pleiotropic biologic activ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract::We report 2 novel, cryptic chromosomal abnormalities in precursor B-cell acute lymphoblastic leukemia (BCP-ALL): a translocation, either t(X;14)(p22;q32) or t(Y;14)(p11;q32), in 33 patients and an interstitial deletion, either del(X)(p22.33p22.33) or del(Y)(p11.32p11.32), in 64 patients, involving the pseudoautosomal ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-03-208397
更新日期:2009-09-24 00:00:00