Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation.

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 Transplant

authors

Gatz SA,Benninghoff U,Schütz C,Schulz A,Hönig M,Pannicke U,Holzmann KH,Schwarz K,Friedrich W

doi

10.1038/bmt.2010.169

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

552-6

issue

4

eissn

0268-3369

issn

1476-5365

pii

bmt2010169

journal_volume

46

pub_type

杂志文章
  • Innovative strategies minimize engraftment syndrome in multiple myeloma patients with novel induction therapy following autologous hematopoietic stem cell transplantation.

    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

    authors: Gutiérrez-García G,Rovira M,Magnano L,Rosiñol L,Bataller A,Suárez-Lledó M,Cibeira MT,de Larrea CF,Garrote M,Jorge S,Moreno A,Rodríguez-Lobato LG,Carreras E,Díaz-Ricart M,Palomo M,Martínez C,Urbano-Ispizua A,Bladé J,Fe

    更新日期:2018-12-01 00:00:00

  • Quality of life and outcomes in patients⩾60 years of age after allogeneic hematopoietic cell transplantation.

    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

    authors: Hamilton BK,Rybicki L,Dabney J,McLellan L,Haddad H,Foster L,Abounader D,Kalaycio M,Sobecks R,Dean R,Duong H,Hill BT,Bolwell BJ,Copelan EA

    更新日期:2014-11-01 00:00:00

  • Choice of bone marrow transplantation as treatment for severe aplastic anaemia.

    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:

    authors: Gordon-Smith EC

    更新日期:1989-12-01 00:00:00

  • Patients with acute myeloid leukemia undergoing allogeneic hematopoietic cell transplantation: trends in survival during the past two decades.

    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

    authors: Yanada M,Masuko M,Mori J,Aoki J,Mizuno S,Fukuda T,Kakihana K,Ozawa Y,Ota S,Kanamori H,Mori T,Nakamae H,Eto T,Shiratori S,Maeda T,Iwato K,Ichinohe T,Kanda Y,Tanaka J,Atsuta Y,Yano S

    更新日期:2019-04-01 00:00:00

  • Prognostic significance of microRNA-99a in acute myeloid leukemia patients undergoing allogeneic hematopoietic stem cell transplantation.

    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

    authors: Cheng Z,Zhou L,Hu K,Dai Y,Pang Y,Zhao H,Wu S,Qin T,Han Y,Hu N,Chen L,Wang C,Zhang Y,Wu D,Ke X,Shi J,Fu L

    更新日期:2018-09-01 00:00:00

  • Feasibility and timing of unrelated donor identification for patients with ALL.

    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:

    authors: Davies SM,Ramsay NK,Weisdorf DJ

    更新日期:1996-05-01 00:00:00

  • Quality of life and behavioral adjustment after pediatric bone marrow transplantation.

    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

    authors: Barrera M,Boyd-Pringle LA,Sumbler K,Saunders F

    更新日期:2000-08-01 00:00:00

  • Liver disease during the first post-transplant year in bone marrow transplantation recipients: retrospective study.

    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

    authors: Kim BK,Chung KW,Sun HS,Suh JG,Min WS,Kang CS,Sim SI,Shin WS,Kim CC

    更新日期:2000-07-01 00:00:00

  • Influence of preapheresis clinical factors on the efficiency of CD34+ cell collection by large-volume apheresis.

    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

    authors: Sarkodee-Adoo C,Taran I,Guo C,Buadi F,Murthy R,Cox E,Lopez R,Westphal S,Shope S,O'Connell B,Wethers L,Meisenberg B

    更新日期:2003-05-01 00:00:00

  • Evaluation of optimal survival of primitive progenitor cells (LTC-IC) from PBPC apheresis products after overnight storage.

    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

    authors: Petzer AL,Gunsilius E,Zech N,Clausen J,Hoflehner E,Nussbaumer W,Gastl G

    更新日期:2000-01-01 00:00:00

  • Factors influencing catheter-related infections in the Dutch multicenter study on high-dose chemotherapy followed by peripheral SCT in high-risk breast cancer patients.

    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

    authors: Nieboer P,de Vries EG,Mulder NH,Rodenhuis S,Bontenbal M,van der Wall E,van Hoesel QG,Smit WM,Hupperets P,Voest EE,Nooij MA,Boezen HM,van der Graaf WT

    更新日期:2008-10-01 00:00:00

  • Graft-versus-lymphoma effect of donor lymphocyte infusion in indolent lymphomas relapsed after allogeneic stem cell transplantation.

    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

    authors: Mandigers CM,Verdonck LF,Meijerink JP,Dekker AW,Schattenberg AV,Raemaekers JM

    更新日期:2003-12-01 00:00:00

  • Cost-effectiveness of CD34+ dose in peripheral blood progenitor cell transplantation for non-Hodgkin's lymphoma patients: a single centre study.

    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

    authors: Limat S,Woronoff-Lemsi MC,Deconinck E,Racadot E,Jacquet M,Herve P,Cahn JY

    更新日期:2000-05-01 00:00:00

  • Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count.

    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

    authors: Bolotin E,Annett G,Parkman R,Weinberg K

    更新日期:1999-04-01 00:00:00

  • Viridans streptococcal septicaemia in neutropenic patients: role of proinflammatory cytokines.

    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

    authors: Ihendyane N,Sparrelid E,Wretlind B,Remberger M,Andersson J,Ljungman P,Ringdén O,Normark BH,Allen U,Low DE,Norrby-Teglund A

    更新日期:2004-01-01 00:00:00

  • Prolonged remission of longstanding systemic lupus erythematosus after autologous bone marrow transplant for non-Hodgkin's lymphoma.

    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

    authors: Snowden JA,Patton WN,O'Donnell JL,Hannah EE,Hart DN

    更新日期:1997-06-01 00:00:00

  • Heparin-induced thrombocytopenia after bone marrow transplantation: report of two cases.

    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:

    authors: Tezcan AZ,Tezcan H,Gastineau DA,Armitage JO,Haire WD

    更新日期:1994-09-01 00:00:00

  • CD34+ cell dose, conditioning regimen and prior chemotherapy: factors with significant impact on the early kinetics of donor chimerism after allogeneic hematopoietic cell transplantation.

    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

    authors: Mohr B,Koch R,Thiede C,Kroschinsky F,Ehninger G,Bornhäuser M

    更新日期:2004-12-01 00:00:00

  • Characterization of CD34+ subsets derived from bone marrow, umbilical cord blood and mobilized peripheral blood after stem cell factor and interleukin 3 stimulation.

    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

    authors: De Bruyn C,Delforge A,Lagneaux L,Bron D

    更新日期:2000-02-01 00:00:00

  • A phase I/II trial of intrabone marrow cord blood transplantation and comparison of the hematological recovery with the Japanese nationwide database.

    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

    authors: Kurita N,Gosho M,Yokoyama Y,Kato T,Obara N,Sakata-Yanagimoto M,Hasegawa Y,Uchida N,Takahashi S,Kouzai Y,Atsuta Y,Kurata M,Ichinohe T,Chiba S

    更新日期:2017-04-01 00:00:00

  • Feasibility of clofarabine cytoreduction before allogeneic transplant conditioning for refractory AML.

    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

    authors: Locke FL,Artz A,Rich E,Zhang Y,van Besien K,Stock W

    更新日期:2010-12-01 00:00:00

  • Early recovery of aggressive cytotoxic cells and improved immune resurgence with post-transplant immunotherapy for multiple myeloma.

    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

    authors: Meehan KR,Wu J,Bengtson E,Hill J,Ely P,Szczepiorkowski Z,Kendall M,Ernstoff MS

    更新日期:2007-06-01 00:00:00

  • Short-term sonic-hedgehog gene therapy to mitigate myelosuppression in highly irradiated monkeys: hype or reality?

    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

    authors: Drouet M,Garrigou P,Peinnequin A,Hérodin F

    更新日期:2014-02-01 00:00:00

  • Clinical strategies for the management of cytomegalovirus infection and disease in allogeneic bone marrow transplant.

    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

    authors: Prentice HG,Kho P

    更新日期:1997-01-01 00:00:00

  • Comparison of anxiety, pain and discomfort in two procedures of hematopoietic stem cell collection: leukacytapheresis and bone marrow harvest.

    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:

    authors: Auquier P,Macquart-Moulin G,Moatti JP,Blache JL,Novakovitch G,Blaise D,Faucher C,Viens P,Maraninchi D

    更新日期:1995-10-01 00:00:00

  • Mobilization of peripheral blood progenitor cells by high-dose Ara C, VP-16 and recombinant human granulocyte colony-stimulating factor: factors affecting progenitor cell yields.

    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:

    authors: Shimazaki C,Yamagata N,Tatsumi T,Hirata T,Oku N,Ashihara E,Goto H,Inaba T,Fujita N,Haruyama H

    更新日期:1995-05-01 00:00:00

  • Optimal scheduling to reduce morbidity of involved field radiotherapy with transplantation for lymphomas: a prospective Australasian Leukaemia and Lymphoma Group Study.

    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

    authors: Wirth A,Prince HM,Wolf M,Stone JM,Matthews J,Gibson J,Macleod C,Szer J,Grigg A,To B,Roos D,Schwarer AP,Davis S,Australasian Leukaemia and Lymphoma Group.

    更新日期:2005-02-01 00:00:00

  • The clinical diagnosis of acute graft-versus-host disease: a diversity of views amongst marrow transplant centers.

    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:

    authors: Atkinson K,Horowitz MM,Biggs JC,Gale RP,Rimm AA,Bortin MM

    更新日期:1988-01-01 00:00:00

  • Delayed or delayed sequential bone marrow transplantation: relevance for acute graft-versus-host disease prevention after major H2 incompatible transplantation.

    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

    authors: Mabed M,Maroof S,Zalta K,El-Awadee M

    更新日期:2005-04-01 00:00:00

  • The role of granulocyte colony-stimulating factor (G-CSF) in the post-transplant period.

    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

    authors: Hornedo J,Solá C,Solano C,López JJ,Alonso S,Lluch A,Ojeda B,Garcia-Conde J,Cortés-Funes H,SOLTI Group.

    更新日期:2002-05-01 00:00:00