Abstract:
:Autosomal-recessive hyper-IgE syndrome (AR-HIES) is a combined immunodeficiency recently found to be associated with mutations of DOCK8. Clinically, this disorder is characterized beside recurrent bacterial complications, in particular by an unusual susceptibility to extensive cutaneous viral complications and by a high risk for squamous cell carcinoma. Here, we report on lasting control over the disorder in two patients by hematopoietic cell transplantation (HCT). Both patients were suffering from extensive long-lasting cutaneous viral complications, in particular from disfiguring molluscum contagiosum infections, when treated at the age of 10 and 17 years. Donors were matched unrelated, and conditioning was carried out with a combination of fludarabine, melphalan and BM-targeted radioimmunotherapy. Both patients developed stable, full donor cell chimerism, with the exception of persistent low-IgA serum levels and the exception of normal immune functions. Over the course of several months, cutaneous manifestations of viral disease resolved completely and both patients remain clinically well and free of infectious complications at 4 and 2 years, respectively, after transplantation. This represents the first report indicating HCT to be curative in patients with AR-HIES, which should be considered early before life-threatening complications develop, which include malignancies.
journal_name
Bone Marrow Transplantjournal_title
Bone marrow transplantationauthors
Gatz SA,Benninghoff U,Schütz C,Schulz A,Hönig M,Pannicke U,Holzmann KH,Schwarz K,Friedrich Wdoi
10.1038/bmt.2010.169subject
Has Abstractpub_date
2011-04-01 00:00:00pages
552-6issue
4eissn
0268-3369issn
1476-5365pii
bmt2010169journal_volume
46pub_type
杂志文章abstract::Autologous stem cell transplantation (PBSCT) is standard for young patients in MM and its TRM has decreased after the 2000s. Bortezomib and immunomodulatory agents (IMiDs) in MM have improved the outcome. However, they seem to boost pro-inflammatory stage increasing the incidence of engraftment syndrome (ES). Favorabl...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/s41409-018-0189-2
更新日期:2018-12-01 00:00:00
abstract::Hematopoietic cell transplantation (HCT) has become an established standard of care for many older patients with hematologic malignancies. The effect of transplantation on the quality of life (QOL) of older patients, however, has not been well studied. We thus analyzed QOL in patients ⩾60 undergoing an allogeneic HCT ...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章
doi:10.1038/bmt.2014.166
更新日期:2014-11-01 00:00:00
abstract::Bone marrow transplantation is the first line of treatment for all patients with aplastic anaemia who have an identical twin. Age is not an important consideration in these circumstances. For patients with an HLA identical sibling donor bone marrow transplantation should be offered as a matter of urgency to those pati...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,评审
doi:
更新日期:1989-12-01 00:00:00
abstract::It remains unclear how specific innovations in allogeneic hematopoietic cell transplantation (HCT) attained over the past decades have contributed to improvement in transplantation outcomes. To address this question, we conducted a registry-based study of adults with acute myeloid leukemia in first or second complete ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/s41409-018-0301-7
更新日期:2019-04-01 00:00:00
abstract::Overexpression of microRNA-99a (miR-99a) have been associated with adverse prognosis in acute myeloid leukemia (AML). Nevertheless, whether it also predicts poor outcome in post-allogeneic hematopoietic stem cell transplantation (allo-HSCT) AML patients remains unclear. To further elucidate the prognostic value of miR...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/s41409-018-0146-0
更新日期:2018-09-01 00:00:00
abstract::Patients with relapsed ALL frequently have short duration second or later remissions, leaving only a brief window of time when it is possible to perform BMT. When no sibling donor is available, identifying and unrelated donor in a timely fashion can be difficult while autologous BMT (ABMT) can be performed more quickl...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract::The purpose of this study was two-fold: to describe the quality of life and behavioral adjustment of survivors of pediatric bone marrow transplantation (BMT) prior to and 6 months post-BMT; and, to identify correlates of survivors' quality of life and behavioral adjustment. Participants were 26 children and adolescent...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702527
更新日期:2000-08-01 00:00:00
abstract::Liver dysfunction is a common problem in BMT recipients and it is important to determine the etiology in order to institute appropriate therapy. The purpose of this study was to evaluate the possible causes of liver dysfunction during the first post-transplant year in BMT recipients and to identify a possible relation...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702453
更新日期:2000-07-01 00:00:00
abstract::We evaluated 120 leukapheresis procedures (93 patients), in order to detect clinical factors that influence the efficiency of CD34+ collection using Cobe Spectra trade mark cell separators. Hematocrit was >27% and platelet count >30 000/microl in >95% of patients. Platelet transfusions were given if the postprocedure ...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704034
更新日期:2003-05-01 00:00:00
abstract::Optimal overnight (ON) storage of PBPC aphereses is becoming an increasingly important issue and different options for storing PBPC products exist. The survival of primitive progenitor cells is of major interest, as recent data suggest that these progenitors are not only important for long-term engraftment but also co...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702104
更新日期:2000-01-01 00:00:00
abstract::Neutropenia following high-dose chemotherapy leads to a high incidence of infectious complications, of which central venous catheter-related infections predominate. Catheter-related infections and associated risk factors in 392 patients participating in a randomized adjuvant breast cancer trial and assigned to receive...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,多中心研究
doi:10.1038/bmt.2008.195
更新日期:2008-10-01 00:00:00
abstract::Donor lymphocyte infusions (DLI) are used to treat relapsed haematological diseases after allogeneic stem cell transplantation (SCT). We treated seven patients with DLI for indolent non-Hodgkin's lymphoma relapsed after SCT. In available blood and bone marrow samples, lymphoma cells were analysed by real-time quantita...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704290
更新日期:2003-12-01 00:00:00
abstract::Intensive high-dose chemotherapy with peripheral blood progenitor cell (PBPC) transplantation is a common strategy for aggressive non-Hodgkin's lymphomas (NHL). A retrospective cost-effectiveness analysis of CD34+ cell dose was carried out. Between 1994 and 1998, 28 patients were included. Efficacy was measured by the...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702378
更新日期:2000-05-01 00:00:00
abstract::IL-7 is produced by stromal cells and is the major lympho- and thymopoietic cytokine. IL-7 induces proliferation and differentiation of immature thymocytes, and protects thymocytes from apoptosis by induction of bcl-2 expression. The regulation of IL-7 production is poorly characterized, although down-regulation by tr...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1701655
更新日期:1999-04-01 00:00:00
abstract::The immunostimulatory activity of viridans streptococcal strains isolated from neutropenic patients with severe sepsis (n=9) or uncomplicated bacteraemia (n=10) was compared. Peripheral blood mononuclear cells from healthy individuals were stimulated with heat-killed bacteria or culture supernatants, and cytokine prod...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704302
更新日期:2004-01-01 00:00:00
abstract::We describe a patient with longstanding steroid-dependent systemic lupus erythematosus (SLE) in whom clinical and serological remission was achieved following high-dose therapy and autologous bone marrow rescue for high-grade non-Hodgkin's lymphoma. However, 3 years later, autoimmune disease re-presented in the form o...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1700815
更新日期:1997-06-01 00:00:00
abstract::Persistent thrombocytopenia and thrombotic complications are commonly observed in bone marrow transplant (BMT) patients. We describe two incidents following BMT in which heparin may have played a contributory role. One patient developed subclavian venous thrombosis following autologous BMT in spite of the severe throm...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract::The aim of this study was to define factors that significantly influence the early kinetics of donor chimerism after transplantation. In a retrospective study, the percentage of donor chimerism in peripheral blood measured with sex-chromosome-specific probes and fluorescence-in situ hybridization was analyzed in 184 r...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704710
更新日期:2004-12-01 00:00:00
abstract::We characterized CD34+ cells purified from bone marrow (BM), mobilized peripheral blood (PB) and cord blood (CB) and we tried to establish correlations between the cell cycle kinetics of the CD34+CD38- and CD34+CD38+ subpopulations, their sensitivity to SCF and IL-3 and their expression of receptors for these two CSFs...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1702145
更新日期:2000-02-01 00:00:00
abstract::Intrabone marrow cord blood transplantation (IB-CBT) was proposed as a promising treatment modality to improve hematological recovery. However, clinical advantages of IB-CBT over conventional IV CBT have been unclear. We conducted a prospective single-center trial of IB-CBT to evaluate its safety and superiority in te...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2016.319
更新日期:2017-04-01 00:00:00
abstract::To control disease before allogeneic hematopoietic cell transplantation (HCT) for relapsed/refractory AML, we used clofarabine cytoreduction. Seventeen patients received clofarabine 30-40 mg/m(2) i.v. daily for 5 days with plans to initiate conditioning during the nadir, 14 days later. Bone marrow biopsy 12 days afte...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2010.32
更新日期:2010-12-01 00:00:00
abstract::A phase I/II trial evaluated early administration and dose escalation of interleukin (IL)-2 with granulocyte macrophage colony stimulating factor (GM-CSF) post-transplant. Following melphalan (200 mg/m(2)) and an autologous transplant, IL-2 was initiated (day 0) and continued for 4 weeks. GM-CSF (250 mcg/m(2)/day) beg...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1705665
更新日期:2007-06-01 00:00:00
abstract::The protection of hematopoietic stem and progenitor cells and their environment is required for recovery from radiation-induced (RI) myelosuppression. To achieve this goal, we propose a new gene therapy strategy based on local and short-term synthesis and expression of Sonic hedgehog morphogene (Shh) at the niche leve...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/bmt.2013.162
更新日期:2014-02-01 00:00:00
abstract::Four clinical strategies are proposed for the management of CMV disease: prophylaxis, suppression, pre-emptive therapy and treatment. The degree of risk of developing CMV disease and the safety profile of the presently available drugs need to be considered when deciding on the most appropriate approach. We conclude th...
journal_title:Bone marrow transplantation
pub_type: 杂志文章,评审
doi:10.1038/sj.bmt.1700630
更新日期:1997-01-01 00:00:00
abstract::The aim of this study was to compare anxiety, pain and discomfort of cancer patients submitted to either peripheral blood progenitor cell collection (PBPCC) or bone marrow harvest (BMH). Patients, randomized (7/1993-2/1994), in view of autograft, to receive the first procedure or the second one, completed self-adminis...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1995-10-01 00:00:00
abstract::Forty seven patients with hematological malignancies were treated with high doses of cytosine arabinoside (Ara C; 12 g/m2) and etoposide (VP-16), followed by recombinant human granulocyte colony-stimulating factor (rhG-CSF; 50 micrograms/m2). Peripheral blood progenitor cells (PBPC) were collected during rapid leukocy...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::This study evaluated delivery of involved field radiotherapy (IFRT) with transplantation for lymphomas timed to minimise toxicity. Patients transplanted for lymphoma had infradiaphragmatic disease irradiated pre-transplant and supradiaphragmatic disease post transplant. A total of 31 patients were studied, with a medi...
journal_title:Bone marrow transplantation
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1038/sj.bmt.1704759
更新日期:2005-02-01 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::During this study, BalB/C mice were used as recipients and C57 bl/6 mice as donors. Recipients were given 800 cGys of total body irradiation (TBI) on day 0. Transplantation was carried out as follows: group (1): TBI on day 0; group (2): TBI on day 0 and transplantation on day +1; group (3): TBI on day 0 and transplant...
journal_title:Bone marrow transplantation
pub_type: 杂志文章
doi:10.1038/sj.bmt.1704877
更新日期:2005-04-01 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