Abstract:
:Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Although hematopoietic cell transplantation (HCT) has been performed in these patients for more than 30 years, large studies on the long-term outcome of patients with MPS-IH after HCT are lacking. The goal of this international study was to identify predictors of the long-term outcome of patients with MPS-IH after successful HCT. Two hundred seventeen patients with MPS-IH successfully engrafted with a median follow-up age of 9.2 years were included in this retrospective analysis. Primary endpoints were neurodevelopmental outcomes and growth. Secondary endpoints included neurologic, orthopedic, cardiac, respiratory, ophthalmologic, audiologic, and endocrinologic outcomes. Considerable residual disease burden was observed in the majority of the transplanted patients with MPS-IH, with high variability between patients. Preservation of cognitive function at HCT and a younger age at transplantation were major predictors for superior cognitive development posttransplant. A normal α-l-iduronidase enzyme level obtained post-HCT was another highly significant predictor for superior long-term outcome in most organ systems. The long-term prognosis of patients with MPS-IH receiving HCT can be improved by reducing the age at HCT through earlier diagnosis, as well as using exclusively noncarrier donors and achieving complete donor chimerism.
journal_name
Bloodjournal_title
Bloodauthors
Aldenhoven M,Wynn RF,Orchard PJ,O'Meara A,Veys P,Fischer A,Valayannopoulos V,Neven B,Rovelli A,Prasad VK,Tolar J,Allewelt H,Jones SA,Parini R,Renard M,Bordon V,Wulffraat NM,de Koning TJ,Shapiro EG,Kurtzberg J,Boeldoi
10.1182/blood-2014-11-608075subject
Has Abstractpub_date
2015-03-26 00:00:00pages
2164-72issue
13eissn
0006-4971issn
1528-0020pii
blood-2014-11-608075journal_volume
125pub_type
杂志文章,多中心研究相关文献
BLOOD文献大全abstract::Antibody-mediated pure red cell aplasia is a rare but serious event resulting from the induction of neutralizing erythropoietin (Epo)-specific antibodies provoked by treatment with recombinant Epo. Because of the crucial role of CD4 T cells in humoral response, we have quantified the number of Epo-specific CD4 T cells...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-04-280875
更新日期:2010-11-25 00:00:00
abstract::Recent studies have reported that the pharmacokinetics of high-dose busulfan in bone marrow transplantation (BMT) are age-dependent: with the usual dosage of 16 mg/kg over 4 days, systemic exposure is two to four times lower in children than in adults. Data suggested that the dose of busulfan should rather be calculat...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-05-01 00:00:00
abstract::We have analyzed the reactivation of fetal hemoglobin (HbF) synthesis under rigorous in vitro conditions, ie, in mature erythroblasts generated by erythroid burst-forming units (BFU-E) stringently purified from normal adult peripheral blood and grown in fetal calf serum(FCS)-free semisolid or liquid phase culture. In ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-01-15 00:00:00
abstract::Marrow graft failure observed in association with histocompatibility differences between donor and recipient is often attributed to rejection mediated by host-derived cytolytic T lymphocytes. The data presented in this report indicate that persistent host antibodies specific for donor antigen may also mediate graft fa...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-10-01 00:00:00
abstract::We have examined the effects of administration of stem cell-factor (SCF) on the number and distribution of pluripotent hematopoietic stem cells (PHSC) in normal mice. Using the competitive repopulation assay we found that in vivo administration of SCF increases the absolute number of PHSC per mouse threefold. The incr...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-07-15 00:00:00
abstract::Donor lymphocyte infusions (DLIs) induce potent graft versus tumor (GVT) effects for relapsed chronic myelogenous leukemia (CML) after allogeneic stem cell transplantation (SCT) but are disappointing for other diseases. Disease resistance can occur if donor T cells are not appropriately activated in vivo. Ex vivo T-ce...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-08-3373
更新日期:2006-02-15 00:00:00
abstract::Leukocyte transendothelial migration (TEM) is a critical event during inflammation. CD47 has been implicated in myeloid cell migration across endothelium and epithelium. CD47 binds to signal regulatory protein (SIRP), SIRPalpha and SIRPgamma. So far, little is known about the role of endothelial CD47 in T-cell TEM in ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-01-134429
更新日期:2008-08-15 00:00:00
abstract::This study describes a simple and relatively rapid method of purifying Reed-Sternberg (R-S) cells and their morphologic variants from the lymph nodes of patients affected by Hodgkin's disease. Our initial studies defined the optimal procedure for a quantitative disaggregation of Hodgkin's lymph nodes and the densities...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::Monoclonal antibodies were raised after injecting mice with isolated human dense granules. Several of these monoclonals were found to recognize a 40-Kd dense granule membrane protein. Western blot and immunofluorescent analysis confirmed the dense-granule specificity. After thrombin activation, the protein was found i...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract::Chromosomal translocations involving band 3q27 are the recently described nonrandom cytogenetic abnormalities in B-cell malignancies. We have previously cloned the breakpoint region of 3q27, designated as the BCL5 locus, from the B-cell line carrying the t(3;22). The cDNA for the BCL5 gene was cloned from the human li...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::Monocytes and T helper (T(H)) cells rapidly infiltrate inflamed tissues where monocytes differentiate into inflammatory dendritic cells (DCs) through undefined mechanisms. Our studies indicate that T(H) cells frequently interact with monocytes in inflamed skin and elicit the differentiation of specialized DC subsets c...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-03-341065
更新日期:2011-09-22 00:00:00
abstract::Natural killer (NK) cells have been originally defined by their "naturally occurring" effector function. However, only a fraction of human NK cells is reactive toward a panel of prototypical tumor cell targets in vitro, both for the production of interferon-gamma (IFN-gamma) and for their cytotoxic response. In patien...
journal_title:Blood
pub_type: 杂志文章,多中心研究
doi:10.1182/blood-2007-11-122259
更新日期:2008-05-15 00:00:00
abstract::An inherited fibrinogen variant, fibrinogen Bern I, was isolated from plasma of an asymptomatic woman. Routine coagulation studies showed prolonged thrombin and reptilase clotting times. Fibrinogen concentration was diminished when determined by a functional assay, but was normal by the heat precipitation method. The ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::Regulatory molecules produced by stromal cells are often membrane bound until cleaved by matrix metalloproteinases (MMPs); cleavage can either activate or inactivate regulatory functions. We report here that marrow stromal cells induce the expression of MMP-9 in monocytes. Induction was contact independent and could b...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-05-020289
更新日期:2007-01-01 00:00:00
abstract::Unseparated or Ficoll-Hypaque (Pharmacia, Piscataway, NJ)--fractionated human cord blood cells were transplanted into sublethally irradiated severe combined immunodeficient (SCID) mice. High levels of multilineage engraftment, including myeloid and lymphoid lineages, were obtained with 80% of the donor samples as asse...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract::Heparin-induced thrombocytopenia/thrombosis (HIT/T) is a common complication of heparin therapy that is caused by antibodies to platelet factor 4 (PF4) complexed with heparin. The immune response is polyclonal and polyspecific, ie, more than one neoepitope on PF4 is recognized by HIT/T antibodies. One such epitope has...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v99.4.1230
更新日期:2002-02-15 00:00:00
abstract::Granulocyte-macrophage colony-stimulating factor (GM-CSF) has previously been shown to stimulate granulocyte, macrophage, and megakaryocyte lineages to act as an erythroid burst-promoting activity and to stimulate limited replication of spleen colony-forming cells. Here we demonstrate that murine GM-CSF alone or in co...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract::Delivery of biologically active peptides into human polymorphonuclear neutrophils (PMNs) has implications for studying cellular functions and may be therapeutically relevant. The transcription factor nuclear factor-kappaB (NF-kappaB) regulates the expression of multiple genes controlling inflammation, proliferation, a...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-09-2960
更新日期:2003-09-15 00:00:00
abstract::Platelet membrane GPIIb is comprised of a disulfide-linked heavy chain (GPIIb(H)) and light chain (GPIIb(L)). We have examined the role of the two chains of GPIIb in the maintenance of the GPIIb-IIIa heterodimer and Arg-Gly-Asp (RGD) peptide-binding function. Lysates of surface radioiodinated platelets were treated wi...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-05-01 00:00:00
abstract::Dendritic cells (DCs) are specialized antigen-presenting cells that monitor the antigenic environment and activate naive T cells. The role of DCs is not only to sense danger but also to tolerize the immune system to antigens encountered in the absence of maturation/inflammatory stimuli. Indeed, if a naive T cell encou...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-03-1211
更新日期:2005-02-01 00:00:00
abstract::Analysis of fresh human tumors have indicated that patients with B type lymphoproliferative diseases and the majority of patients with acute lymphoblastic leukemia (ALL) express elevated levels of p53 production. It is suggested that in these human malignancies, p53 may provide a novel tool for monitoring cancer activ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-07-01 00:00:00
abstract::Epstein-Barr virus (EBV) is a ubiquitous virus that establishes a latent infection within the host and in some cases can lead to the development of EBV-associated lymphomas, lymphoproliferative disorders, hemophagocytic lymphohistiocytosis, solid tumors, and other diseases. We studied the clinical significance of dete...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2015-09-672030
更新日期:2016-04-21 00:00:00
abstract::A cone and plate viscometer and Coulter Counter were used to study platelet modulation of polymorphonuclear leukocyte (PMNL) aggregation caused by controlled shear stress. As an index of aggregation, the large-particle percentage (LPP) was calculated. This represents the ratio of aggregated cell count to total cell co...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::B-lymphocyte homeostasis and function are regulated by complementary actions of the TNFR family members TACI, BCMA, and BAFF-R, which are expressed by mature B cells. How these receptors are differentially activated is not entirely understood, because the primary ligand BAFF binds to all three. We searched for alterna...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-01-0256
更新日期:2006-04-15 00:00:00
abstract::The selectins are lectin-like cell surface glycoproteins that have been implicated in playing a crucial role in the initiation of leukocyte adhesion to endothelial cells (ECs) during inflammation. Binding of selectins under conditions of flow mediates leukocyte rolling, which in vivo is almost exclusively observed in ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-10-15 00:00:00
abstract::The effect of lipopolysaccharide (LPS) on endothelial cells is a key component of the inflammatory response seen in Gram-negative sepsis. LPS does not cause death of cultured human endothelial cells. However, when the expression of new proteins is inhibited by cycloheximide, microvascular endothelial cells in culture ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-10-15 00:00:00
abstract::Chronic myeloid leukemia (CML) with T315I mutation has been reported to have poor prognosis. We analyzed 27 patients with T315I, including 20 who developed T315I after imatinib failure (representing 11% of 186 patients with imatinib failure), and 7 of 23 who developed new mutations after second tyrosine kinase inhibit...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-11-123950
更新日期:2008-07-01 00:00:00
abstract::In haploidentical transplantation, the mismatched haplotype of the donor can originate from either of the parents. We refer to such mismatched haplotypes as noninherited maternal antigens (NIMA haplotype) or noninherited paternal antigens (NIPA haplotype). To determine whether exposure to maternal HLA antigens benefit...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v99.5.1572
更新日期:2002-03-01 00:00:00
abstract::Congenital hypothyroidism (CH) is one of the most prevalent endocrine diseases, for which the underlying mechanisms remain unknown; it is often accompanied by anemia and immunodeficiency in patients. Here, we created a severe CH model together with anemia and T lymphopenia to mimic the clinical features of hypothyroid...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2017-05-783043
更新日期:2017-11-16 00:00:00
abstract::Severe factor V (FV) deficiency is a rare bleeding disorder, whose genetic bases have been characterized only in a limited number of cases. We investigated 6 unrelated patients with extremely reduced plasma FV levels, associated with a bleeding tendency ranging from moderately severe to severe. Clinical manifestations...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-03-0922
更新日期:2003-11-01 00:00:00