Abstract:
:Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.
journal_name
Bone Marrow Transplantjournal_title
Bone marrow transplantationauthors
Zix-Kieffer I,Langer B,Eyer D,Acar G,Racadot E,Schlaeder G,Oberlin F,Lutz Psubject
Has Abstractpub_date
1996-07-01 00:00:00pages
217-20issue
1eissn
0268-3369issn
1476-5365journal_volume
18pub_type
杂志文章abstract::Toxoplasmosis in bone marrow transplant recipients is a rare but serious complication and if untreated, almost uniformly fatal. The diagnosis, however, remains difficult. We therefore compared serial determination of antibody titers specific for T. gondii before and after transplantation, serial PCR for T. gondii DNA ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702457
更新日期:2000-06-01 00:00:00
abstract::Although autologous hematopoietic SCT (auto-HSCT) is the only potentially curative treatment for lymphoma that has relapsed after conventional chemotherapy, the prognosis of patients with disease recurrence after auto-HSCT is poor. Some highly selected patients can benefit from second transplants. One-third with late ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,评审
doi:10.1038/bmt.2009.214
更新日期:2009-11-01 00:00:00
abstract::The development of immune-mediated hemolytic anemia is a well-recognized complication after allogeneic bone marrow transplantation (BMT). The majority of reported cases, however, have been alloimmune in origin due to ABO or minor red blood cell antigen incompatibilities between the donor and recipient. In this study, ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1996-06-01 00:00:00
abstract::Fanconi anaemia is a hereditary disorder characterised by chromosomal breaks increased by cross-linking agents. Bone marrow transplantation is the treatment of choice when a HLA identical sibling donor has been identified. The use of low-dose cyclophosphamide with thoraco-abdominal irradiation for the conditioning reg...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,评审
doi:
更新日期:1998-04-01 00:00:00
abstract::Certain leukemias have a high relapse risk even after allo-SCT, and GVHD prophylaxis with calcineurin inhibitors (CNIs) may interfere with a possible GVL effect. Therefore, we replaced CYA by sirolimus in patients with high relapse risk. In contrast to CNIs, sirolimus promotes the generation of regulatory T-cells and ...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章
doi:10.1038/bmt.2008.377
更新日期:2009-05-01 00:00:00
abstract::Patients with primary metastatic or recurrent rhabdomyosarcoma (RMS) have a very poor prognosis. Since high-dose chemotherapy (HDC) +/- TBI was thought to improve survival, many centers performed this therapy using different types of hematopoietic rescue (auto BM or PBSC, allo BM). This is a retrospective, multi-cente...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,多中心研究
doi:10.1038/sj.bmt.1700628
更新日期:1997-02-01 00:00:00
abstract::HLA-identical sibling donor transplantation remains the treatment of choice for Wiskott-Aldrich Syndrome (WAS). Since 1990, utilization of alternative donor sources has increased significantly. We report the hematopoietic cell transplantation (HCT) outcomes of 47 patients with WAS treated at a single center since 1990...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2012.31
更新日期:2012-11-01 00:00:00
abstract::Infectious complications are frequent events in patients undergoing high-dose cytotoxic chemotherapy with subsequent autologous peripheral blood stem cell transplantation (PBSCT). To evaluate whether a single subcutaneous injection of pegfilgrastim (6 mg) is as safe and effective as daily filgrastim (5 mug/kg/day), 60...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704927
更新日期:2005-05-01 00:00:00
abstract::The severe phenotype of leukocyte adhesion deficiency is a rare, congenital disorder of leukocyte function that is usually fatal in the first few years of life. Allogeneic hematopoietic stem cell transplantation currently offers the only curative approach for this disease. We describe the first successful matched unre...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702049
更新日期:1999-12-01 00:00:00
abstract::While bone marrow (BM) grafts were initially used for T-replete HLA-haploidentical related donors transplantation (Haplo-SCT) with post-transplantation cyclophosphamide (PT-Cy), the use of peripheral blood stem cell (PBSC) remains debated. We thus conducted a detailed analysis evaluating the incidence, risk factors, a...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,多中心研究
doi:10.1038/s41409-019-0500-x
更新日期:2019-11-01 00:00:00
abstract::The physical and psychosocial consequences for patients undergoing blood SCT for the treatment of cancer and their families have been extensively documented. There has, however, been far less investigation into the psychosocial consequences for sibling donors who are both family members and undergoing an invasive medi...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章
doi:10.1038/bmt.2012.22
更新日期:2012-10-01 00:00:00
abstract::Multiple myeloma (MM) is characterized by the expansion of tumor plasma cells in bone marrow (BM), but neoplastic cells have been consistently detected in peripheral blood (PB). Peripheral blood progenitor cell (PBPC) collections have been widely used to support high-dose therapy for MM patients. A flow cytometric tec...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702085
更新日期:2000-01-01 00:00:00
abstract::We investigated the use of 'prophylactic' donor lymphocyte infusions (DLI) containing 1 x 107 CD3+ cells, given at 30, 60 and 90 days post-allogeneic blood and marrow transplantation (BMT), following conditioning with fludarabine 30 mg/m(2)/4 days and melphalan 70 mg/m(2)/2 days. GVHD prophylaxis consisted of cyclospo...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702726
更新日期:2001-01-01 00:00:00
abstract::Acute decompensating cardiomyopathy induced by cyclophosphamide is usually irreversible. To investigate the clinical course and the outcome of therapy, 13 patients (1.7%) with grade III acute cardiomyopathy and hypotension who were treated with ablative transplant regimens between January 1980 and September 1995 were ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::Massive rhabdomyolysis followed by myocardial necrosis was observed in a 14-year-old patient undergoing allogeneic bone marrow transplantation for severe aplastic anemia. Rhabdomyolysis was preceded by the administration of cyclophosphamide as part of a preparative regimen for transplantation Although the specific eti...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1996-06-01 00:00:00
abstract::We report the experience of 14 centers which have used the combination of cytosine arabinoside (ara-C; 24-36 g/m2) and total body irradiation (TBI) to prepare 213 patients with acute lymphoblastic leukemia (ALL) for allogeneic BMT. The overall 3-year disease-free survival (DFS) probability is 38% (95% CI: 31-45%); 75 ...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:1993-01-01 00:00:00
abstract::Whereas patients with multiple myeloma continue to relapse after autologous transplantation and are unlikely to be cured, the probability of progression is less after allogeneic transplantation and a proportion of patients may be cured. This is attributable to an immunologically mediated graft-versus-myeloma (GVM) eff...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,评审
doi:10.1038/sj.bmt.1701459
更新日期:1998-11-01 00:00:00
abstract::The administration of G-CSF post transplant has been shown to accelerate the time to neutrophil engraftment. However, this does not necessarily translate into a meaningful clinical benefit to the patient. This randomized study was designed to determine the role of G-CSF following transplantation in patients with breas...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1038/sj.bmt.1703539
更新日期:2002-05-01 00:00:00
abstract::The presence of recipient disparity for a minor histocompatibility antigen termed HA-1 is associated with an increased risk of grades II-IV GVHD after marrow transplantation from an HLA-identical sibling. These data offer an opportunity to test the validity of theoretical models suggesting that the minor antigens capa...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1700868
更新日期:1997-07-01 00:00:00
abstract::The incidence and severity of GVHD following bone marrow transplantation increases with recipient age. The role of recipient age on the development of GVHD was analyzed in a semi-allogeneic (C57BL/6-->(C57BL/6 x DBA/2)F1) murine GVHD system. Young adult (2 months) and old (12-14 months) recipient mice were lethally ir...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1700719
更新日期:1997-04-01 00:00:00
abstract::Reduced-intensity conditioning (RIC) extends hematopoietic stem cell transplants (HSCT) to elderly or debilitated patients who are not candidates for HSCT. The incidence and outcomes of cardiac complications have been reported following myeloablative HSCT. We assessed the incidence and outcomes of cardiac complication...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2009.97
更新日期:2010-01-01 00:00:00
abstract::Invasive fungal infections are quite rare (1-5%) following conventional ABMT for malignant lymphoma. Two high-risk lymphoma patients (one non-Hodgkin's lymphoma (NHL) and one Hodgkin's disease) underwent ABMT followed by immunotherapy as part of an experimental therapy given to 12 lymphoma patients aiming to prevent r...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1700847
更新日期:1997-07-01 00:00:00
abstract::Immune recovery was retrospectively analyzed in a cohort of 41 patients with acute leukemia, myelodysplastic syndrome and nonmalignant diseases, who received αβ T- and B-cell-depleted allografts from haploidentical family donors. Conditioning regimens consisted of fludarabine or clofarabine, thiotepa, melphalan and se...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2015.87
更新日期:2015-06-01 00:00:00
abstract::The COVID-19 pandemic has serious implications also for patients with other diseases. Here, we describe the effects of the pandemic on unrelated hematopoietic stem cell donation and transplantation from the perspective of DKMS, a large international donor registry. Especially, we cover the development of PBSC and bone...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/s41409-020-01138-0
更新日期:2020-11-20 00:00:00
abstract::The term 'an HLA matched donor' is in general used without giving exact information on the level of resolution of the HLA typing. This can lead to misunderstandings. A proposal is formulated to agree on using six match categories according to the HLA typing technique used to indicate the level of confidence of the mat...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1998-07-01 00:00:00
abstract::The diagnosis and grading of acute graft-versus-host disease (AGVHD) is based on a spectrum of clinical and laboratory features. To evaluate the reliability of current diagnostic and scoring criteria, six clinical vignettes were evaluated by 49 transplant physicians from 42 bone marrow transplant center worldwide. Res...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::The aim of the present study was to explore whether there is enhanced endothelial dysfunction in patients developing acute GvHD (aGvHD) after allogeneic hematopoietic cell transplantation (allo-HCT) and to identify biomarkers with predictive and/or diagnostic value. In in vitro experiments, endothelial cells (ECs) wer...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2017.121
更新日期:2017-09-01 00:00:00
abstract::Clostridium difficile is the most common cause of nosocomial diarrhea in the United States and Europe, and is a cause of significant morbidity and mortality among hospitalized patients. A newly identified epidemic strain has been associated with many hospital outbreaks of C. difficile-associated disease (CDAD), raisin...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,评审
doi:10.1038/bmt.2008.317
更新日期:2008-12-01 00:00:00
abstract::Knowledge of the vital role of adenosine deaminase in lymphatic tissues has led to the development of enzyme inhibitors for treatment of lymphoid neoplasms. Deoxycoformycin is a potent ADA inhibitor and has been shown to be active in acute lymphoblastic leukemia at high doses but associated with unpredictable toxicity...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:1989-01-01 00:00:00
abstract::Neurologic complications (NCs) may be a significant source of morbidity and mortality after hematopoietic cell transplantation (HCT). We performed a retrospective study of 263 consecutive patients undergoing allogeneic HCT for hematological malignancies to determine the incidence, risk factors and clinical impact of N...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2017.239
更新日期:2018-02-01 00:00:00