Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita.

Abstract:

:Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). Patients who received marrow from HLA-identical siblings were conditioned with cyclophosphamide (140-200 mg/kg), with or without antithymocyte globulin. Patients who received unrelated donor marrow were conditioned with cyclophosphamide (120 mg/kg) and total body irradiation (1200 cGy). The six patients who survived for >2 weeks following transplant all had haematological evidence of engraftment, and all three patients who survived for at least a year following transplant recovered normal haematological function. Three patients died with respiratory failure and pulmonary fibrosis at 70 d. 8 years and 20 years posttransplant; three patients died during the neutropenic period of invasive fungal infections; one patient died on day 44 of refractory acute graft-versus-host disease; and one patient remains alive 463 d following transplant. The surviving patient recently underwent surgical resection of a Dukes' stage C rectal carcinoma diagnosed 14 months posttransplant. The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood.

journal_name

Br J Haematol

authors

Langston AA,Sanders JE,Deeg HJ,Crawford SW,Anasetti C,Sullivan KM,Flowers ME,Storb R

doi

10.1046/j.1365-2141.1996.424984.x

subject

Has Abstract

pub_date

1996-03-01 00:00:00

pages

758-65

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

92

pub_type

杂志文章
  • Bone marrow trephine morphology and immunohistochemical findings in chronic myelomonocytic leukaemia.

    abstract::Chronic myelomonocytic leukaemia (CMML) is a clonal disorder with myelodysplastic/myeloproliferative features. Its diagnosis is based on the presence of peripheral blood monocytosis and bone marrow aspirate findings, according to World Health Organization criteria. However, bone marrow trephine biopsy (BMTB) features ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2008.07117.x

    authors: Ngo NT,Lampert IA,Naresh KN

    更新日期:2008-06-01 00:00:00

  • Acute biphenotypic leukaemia: immunophenotypic and cytogenetic analysis.

    abstract::The incidence of acute biphenotypic leukaemia has ranged from less than 1% to almost 50% in various reports in the literature. This wide variability may be attributed to a number of reasons including lack of consistent diagnostic criteria, use of various panels of antibodies, and the failure to recognize the lack of l...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1993.tb03024.x

    authors: Hanson CA,Abaza M,Sheldon S,Ross CW,Schnitzer B,Stoolman LM

    更新日期:1993-05-01 00:00:00

  • Prolonged inhibition of von Willebrand factor-cleaving protease after splenectomy in a 22-year-old patient with acute and plasma refractory thrombotic thrombocytopenic purpura.

    abstract::We report a 22-year-old woman with acute, plasma refractory thrombotic thrombocytopenic purpura (TTP) in whom splenectomy led to consistent stabilization of platelet counts, but who showed complete inhibition of vonWillebrand factor-cleaving protease (VWF-cp) after 6 months of follow up. Persistent protease deficiency...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03566.x

    authors: Langer F,Bergmann F,Budde U,Hegewisch-Becker S,Hossfeld DK

    更新日期:2002-07-01 00:00:00

  • Enhanced activation of B cells in a granulocyte colony-stimulating factor-mobilized peripheral blood stem cell graft.

    abstract::In a randomized study that compared human leucocyte antigen-identical allogeneic granulocyte colony-stimulating factor (G-CSF)-mobilized peripheral blood stem cell (PBSC) versus bone marrow (BM) transplantation, the expression of activation markers, CD23, CD25 and CD45RO by B cells, was compared in blood before and af...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2141.2001.02965.x

    authors: Tayebi H,Lapierre V,Saas P,Lienard A,Sutton L,Milpied N,Attal M,Cahn JY,Kuentz M,Blaise D,Hervé P,Tiberghien P,Robinet E,Société Française de Greffe de Moelle et de Therapie Cellulaire.

    更新日期:2001-09-01 00:00:00

  • Antithrombins Southport (Leu 99 to Val) and Vienna (Gln 118 to Pro): two novel antithrombin variants with abnormal heparin binding.

    abstract::We report the characterization of three variant antithrombins with reduced heparin binding as the primary abnormality. Two of these variants, antithrombin Southport (Leu 99 to Val, 2759 C to G) and antithrombin Vienna (Gln 118 to Pro, 5349 A to C) were novel, whereas the third, Pro 41 to Leu, has been previously descr...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb08369.x

    authors: Chowdhury V,Mille B,Olds RJ,Lane DA,Watton J,Barrowcliffe TW,Pabinger I,Woodcock BE,Thein SL

    更新日期:1995-03-01 00:00:00

  • BCR-ABL rearrangement in a child with acute myelogenous leukaemia without a Philadelphia chromosome.

    abstract::We describe a BCR/ABL rearrangement positive but Philadelphia chromosome negative status in a 9-year-old boy suffering from an acute myelogenous leukaemia (AML). This case was detected in a prospective PCR screening procedure including 21 children with newly diagnosed AML and 150 children with acute lymphoblastic leuk...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1993.tb03077.x

    authors: Borkhardt A,Repp R,Harbott J,Lakomek M,Janssen JW,Schlieben S,Bartram CR,Lampert F

    更新日期:1993-06-01 00:00:00

  • Plasminogen activator inhibitor-1 is an independent diagnostic marker as well as severity predictor of hepatic veno-occlusive disease after allogeneic bone marrow transplantation in adults conditioned with busulphan and cyclophosphamide.

    abstract::We attempted to identify the diagnostic markers and severity predictors of hepatic veno-occlusive disease (VOD) in 115 adult patients who were uniformly conditioned with busulphan and cyclophosphamide and who underwent allogeneic bone marrow transplantation (BMT). A diagnosis of VOD was made according to clinical crit...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03748.x

    authors: Lee JH,Lee KH,Lee JH,Kim S,Seol M,Park CJ,Chi HS,Kang W,Kim ST,Kim WK,Lee JS

    更新日期:2002-09-01 00:00:00

  • Residual expression of functional MHC class II molecules in twin brothers with MHC class II deficiency is cell type specific.

    abstract::We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal Langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.03105.x

    authors: Wolf HM,Thon V,Gulle H,Lechleitner S,Eibl MM,Petzelbauer P

    更新日期:2001-11-01 00:00:00

  • Does sticky blood predict a sticky end? Associations of blood viscosity, haematocrit and fibrinogen with mortality in the West of Scotland.

    abstract::There is increasing evidence that blood viscosity and its major determinants (haematocrit, plasma viscosity and fibrinogen) are associated with an increased risk of incident cardiovascular events; however, their associations with mortality are not established. We therefore studied the associations of these variables w...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2003.04475.x

    authors: Woodward M,Rumley A,Tunstall-Pedoe H,Lowe GD

    更新日期:2003-08-01 00:00:00

  • Malignant histiocytosis: a clinico-pathological study of 12 cases.

    abstract::The clinico-pathological features of 12 cases of malignant histiocytosis (histiocytic medullary reticulosis), aged 12-60 years, were studied. Special emphasis was put on the analysis of the haematological, cytological and histopathological findings of the disease. Bone marrow aspirates and biopsies from involved tissu...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1978.tb03640.x

    authors: Lampert IA,Catovsky D,Bergier N

    更新日期:1978-09-01 00:00:00

  • Karyotype conversion in two patients with chronic myeloid leukaemia after busulphan-induced marrow hypoplasia.

    abstract:SUMMARY:We report two patients with chronic myeloid leukaemia (CML) developing hypoplasia and karyotype conversion after conventional busulphan therapy. Initially, the percentage of Ph-positive metaphases in marrow for both patients was 100%, which steadily diminished up to a complete disappearance in case 1 and decrea...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1996.431974.x

    authors: Xue Y,Zhou XJ,Yu F,Gu J,Guo Y,Xie X,Lin B

    更新日期:1996-03-01 00:00:00

  • Hairy cell leukaemia: observations on natural killer activity in different clinical stages of the disease.

    abstract::Follow-up studies of natural killer (NK) cells, NK activity and antibody dependent cellular cytotoxicity (ADCC) in the course of hairy cell leukaemia (HCL) were carried out in a series of patients affected by the disease. NK activity against K562 targets was found to be high in all the patients with non-symptomatic st...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1989.tb04261.x

    authors: Demeter J,Pálóczi K,Lehoczky D,Benczúr M

    更新日期:1989-02-01 00:00:00

  • Haemoglobin oxygen saturation is a determinant of cerebral artery blood flow velocity in children with sickle cell anaemia.

    abstract::Steady-state haemoglobin (Hb) desaturation is a common finding in sickle cell anaemia (Hb SS) that could predispose to stroke by limiting oxygen delivery to the brain. To determine its association with the risk of overt stroke, we examined the relationship between daytime Hb saturation measured by pulse oximetry (SpO(...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2009.07652.x

    authors: Quinn CT,Variste J,Dowling MM

    更新日期:2009-05-01 00:00:00

  • Refractory anaemia with excess of blasts (RAEB): analysis of reclassification according to the WHO proposals.

    abstract::The French-American-British (FAB) classification assigns patients with myelodysplastic syndromes to the category of refractory anaemia with excess blasts (RAEB) if they have a medullary blast count of 5-20%, and/or a peripheral blast count of 2-5%. The new World Health Organization (WHO) classification subdivides RAEB...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2005.05853.x

    authors: Germing U,Strupp C,Kuendgen A,Aivado M,Giagounidis A,Hildebrandt B,Aul C,Haas R,Gattermann N

    更新日期:2006-01-01 00:00:00

  • The role of plasma exchange in the management of autoimmune disorders.

    abstract::Therapeutic plasma exchange (TPE) has been mainly used in the treatment of autoimmune diseases. The main mechanisms of action of TPE include the removal of circulating autoantibodies, immune complexes, complement components, cytokines and adhesion molecules, along with sensitization of antibody-producing cells to immu...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.15903

    authors: Zanatta E,Cozzi M,Marson P,Cozzi F

    更新日期:2019-07-01 00:00:00

  • Heterogeneity of alleles encoding high- and low-prevalence red blood cell antigens across Africa: useful data to facilitate transfusion in African patients.

    abstract::Ethnic variations in red blood cell (RBC) antigens can be a source of alloimmunization, especially in migrant populations. To improve transfusion safety in continental Africa and countries with African migrants, we performed RBC genotyping to determine allele frequencies coding for high- and low-prevalence antigens. A...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12546

    authors: Silvy M,Beley S,Granier T,Ba A,Chiaroni J,Bailly P

    更新日期:2013-11-01 00:00:00

  • Production of colony stimulating activity in mixed mononuclear cell culture.

    abstract::Culture medium was harvested after co-incubation of mononuclear cells collected and pooled from the peripheral blood of two different normal donors and was tested for colony-stimulating activity (CSA) in agar culture. With bone marrow from normal donors or peripheral blood from patients with chronic granulocytic leuka...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1980.tb07144.x

    authors: Hellmann A,Th'ng KH,Goldman JM

    更新日期:1980-06-01 00:00:00

  • Aminophospholipid translocase and phospholipid scramblase activities in sickle erythrocyte subpopulations.

    abstract::Phosphatidylserine (PS) externalization may contribute to Sickle Cell Disease (SCD) characteristics including thrombogenesis, endothelial adhesion and shortened red blood cell (RBC) lifespan. Aminophospholipid translocase (APLT) returns externalized PS to the inner membrane, and phospholipid scramblase (PLSCR) equilib...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2009.07760.x

    authors: Barber LA,Palascak MB,Joiner CH,Franco RS

    更新日期:2009-08-01 00:00:00

  • Apoptosis in chronic myeloid leukaemia: normal responses by progenitor cells to growth factor deprivation, X-irradiation and glucocorticoids.

    abstract::Inhibition of apoptosis (genetically programmed active cell death) by p210 BCR-ABL expression is a mechanism that might contribute to clonal expansion in chronic myeloid leukaemia (CML). Since cell death following exposure to ionizing radiation and many chemotherapeutic agents can occur by the apoptotic pathway, inhib...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb05308.x

    authors: Amos TA,Lewis JL,Grand FH,Gooding RP,Goldman JM,Gordon MY

    更新日期:1995-10-01 00:00:00

  • Breaking good: the inexorable rise of BTK inhibitors in the treatment of chronic lymphocytic leukaemia.

    abstract::Although expressed in several haematological lineages and involved in multiple different signalling pathways, Bruton tyrosine kinase (BTK) plays an indispensible role in B cells in signalling from the B cell receptor (BCR) for antigen. Many B cell malignancies remain dependent on constitutive BCR signalling, making BT...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.12895

    authors: Hutchinson CV,Dyer MJ

    更新日期:2014-07-01 00:00:00

  • Lymph node enlargement and risk of haematological and solid cancer.

    abstract::Enlarged lymph nodes may be a marker of occult cancer, but accurate data on cancer risk are limited. We used population-based Danish medical registries to assess cancer risk in a cohort of patients with a first-time inpatient or outpatient hospital contact for enlarged lymph nodes during 1994-2008. Observed cancer inc...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12174

    authors: Frederiksen H,Svaerke C,Thomsen RW,Farkas DK,Pedersen L,Weiss NS,Sørensen HT

    更新日期:2013-03-01 00:00:00

  • SOX11 and TP53 add prognostic information to MIPI in a homogenously treated cohort of mantle cell lymphoma--a Nordic Lymphoma Group study.

    abstract::Mantle cell lymphoma (MCL) is an aggressive B cell lymphoma, where survival has been remarkably improved by use of protocols including high dose cytarabine, rituximab and autologous stem cell transplantation, such as the Nordic MCL2/3 protocols. In 2008, a MCL international prognostic index (MIPI) was created to enabl...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/bjh.12854

    authors: Nordström L,Sernbo S,Eden P,Grønbaek K,Kolstad A,Räty R,Karjalainen ML,Geisler C,Ralfkiaer E,Sundström C,Laurell A,Delabie J,Ehinger M,Jerkeman M,Ek S

    更新日期:2014-07-01 00:00:00

  • Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model.

    abstract::To explore the possible role of a residual or variant alphaIIbbeta3 integrin (alphaIIbbeta3) in thrombogenesis, we used a new ex vivo perfusion chamber model to examine blood from patients with different subtypes of Glanzmann's thrombasthenia (GT). Non-anticoagulated blood was perfused through capillaries coated with ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03966.x

    authors: Hainaud P,Brouland JP,André P,Simoneau G,Bal Dit Sollier C,Drouet L,Caen J,Bellucci S

    更新日期:2002-12-01 00:00:00

  • Duodenal expression of NF-E2 in mouse models of altered iron metabolism.

    abstract::This study investigated the relationship between duodenal mucosal mRNA levels of the transcription factor, NF-E2, H-ferritin (a putative NF-E2 regulated gene) and iron absorption in mice. CD1-strain mice with normal and altered iron metabolism (hypoxic, iron-deficient, iron-loaded) and animals with genetic defects of ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb05328.x

    authors: Raja KB,Gerard B,McKie AT,Simpson RJ,Peters TJ,Grandchamp B,Beaumont C

    更新日期:1995-10-01 00:00:00

  • Management of thrombosis in cancer: primary prevention and secondary prophylaxis.

    abstract::Although traditional anticoagulant regimens are highly effective and safe in most patients with venous thromboembolism (VTE), the aggressive natural history of VTE and the high risk of serious bleeding in cancer patients can complicate the management of VTE. In addition, because few clinical trials have focused on the...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2004.05292.x

    authors: Lee AY

    更新日期:2005-02-01 00:00:00

  • Bone marrow fibre production in myelofibrosis: a quantitative study.

    abstract::A digital image processing technique has been used to quantitate bone marrow fibre in histological material (both biopsy and necropsy) from 17 cases of myelofibrosis. An attempt was made to correlate the results of these measurements with other diagnostically relevant parameters. Bone marrow fibre was found to correla...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1979.tb03697.x

    authors: Bentley SA,Herman CJ

    更新日期:1979-05-01 00:00:00

  • Effect of nitric oxide and nitric oxide donors on red blood cell oxygen transport.

    abstract::A mechanism has been proposed in which nitric oxide (NO) may bind to cysteine beta93 and be transported by haemoglobin from the lungs to the tissues and modify vascular tone. In addition, it has been reported that treatment of sickle cell anaemia blood with 80 p.p.m. NO gas in air shifts the oxygen affinity, as measur...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2000.02203.x

    authors: Hrinczenko BW,Alayash AI,Wink DA,Gladwin MT,Rodgers GP,Schechter AN

    更新日期:2000-08-01 00:00:00

  • Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain.

    abstract::Heterozygosity for a C8524T transition in the protein C gene converting Ser270(TCG) to Leu(TTG) in the protease domain was identified in a family with venous thrombosis. The mutation was associated with parallel reduction in plasma levels of protein C anticoagulant activity and protein C antigen, which is consistent w...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.02809.x

    authors: Lind B,Koefoed P,Thorsen S

    更新日期:2001-06-01 00:00:00

  • Use of a biosimilar granulocyte colony-stimulating factor for peripheral blood stem cell mobilization: an analysis of mobilization and engraftment.

    abstract::Peripheral blood haematopoietic progenitor cell mobilization has become a standard procedure prior to autologous stem cell transplantation. Biosimilar granulocyte colony-stimulating factors (GCSF) have recently been awarded European Union (EU) licences for stem cell mobilization but data for their use in this context ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12345

    authors: Publicover A,Richardson DS,Davies A,Hill KS,Hurlock C,Hutchins D,Jenner MW,Johnson PW,Lamb J,Launders H,McKeag N,Newman J,Orchard KH

    更新日期:2013-07-01 00:00:00

  • Canine cyclic haematopoiesis: bone marrow adherent cell influence of CFU-C formation.

    abstract::Canine cyclic haematopoiesis (CH) appears to be a multipotential stem cell defect, possibly due to an intrinsic marrow defect. The in vitro adherent marrow cells of the cyclic haematopoietic (CH) dog were cultured as underlayers beneath normal dog nonadherent marrow cells. The marrow granulocyte-committed colony formi...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1982.tb01961.x

    authors: Jones JB,Jolly JD

    更新日期:1982-04-01 00:00:00