当前位置： SCI文献检索 > BLOOD期刊下所有文献 > Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Abstract：

:Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity among 11 persons studied here was highly variable and, accordingly, age at diagnosis ranged from 2 months to 17 years. Remarkably, in addition to typical manifestations of familial HLH (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical manifestations other than those typically associated with HLH.

journal_name

Blood

journal_title

Blood

authors

Meeths M,Entesarian M,Al-Herz W,Chiang SC,Wood SM,Al-Ateeqi W,Almazan F,Boelens JJ,Hasle H,Ifversen M,Lund B,van den Berg JM,Gustafsson B,Hjelmqvist H,Nordenskjöld M,Bryceson YT,Henter JI

doi

10.1182/blood-2010-05-282541

subject

Has Abstract

pub_date

2010-10-14 00:00:00

pages

2635-43

issue

15

eissn

0006-4971

issn

1528-0020

pii

blood-2010-05-282541

journal_volume

116

pub_type

杂志文章

相关文献

BLOOD文献大全
  • How I treat anticoagulated patients undergoing an elective procedure or surgery.

    abstract：:The periprocedural management of patients receiving long-term oral anticoagulant therapy remains a common but difficult clinical problem, with a lack of high-quality evidence to inform best practices. It is a patient's thromboembolic risk that drives the need for an aggressive periprocedural strategy, including the us...

    journal_title：Blood

    pub_type： 杂志文章,评审

    doi：10.1182/blood-2012-06-415943

    authors： Spyropoulos AC,Douketis JD

    更新日期：2012-10-11 00:00:00

  • The reversible binding of vinblastine to platelets: implications for therapy.

    abstract：:The ability of platelets to adsorb vinblastine has been used to treat patients with immune thrombocytopenia. It is hypothesized that the drug-platelet complex is coated with antibody, taken up by macrophages which are then destroyed by the drug. We gave 16 courses of vinblastine-platelets to six patients with immune t...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Kelton JG,McDonald JW,Barr RM,Walker I,Nicholson W,Neame PB,Hamid C,Wong TY,Hirsh J

    更新日期：1981-03-01 00:00:00

  • Hematopoietic stem/progenitor cells, generation of induced pluripotent stem cells, and isolation of endothelial progenitors from 21- to 23.5-year cryopreserved cord blood.

    abstract：:Cryopreservation of hematopoietic stem cells (HSCs) and hematopoietic progenitor cells (HPCs) is crucial for cord blood (CB) banking and transplantation. We evaluated recovery of functional HPC cryopreserved as mononuclear or unseparated cells for up to 23.5 years compared with prefreeze values of the same CB units. H...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2011-01-330514

    authors： Broxmeyer HE,Lee MR,Hangoc G,Cooper S,Prasain N,Kim YJ,Mallett C,Ye Z,Witting S,Cornetta K,Cheng L,Yoder MC

    更新日期：2011-05-05 00:00:00

  • Alterations of systemic and muscle iron metabolism in human subjects treated with low-dose recombinant erythropoietin.

    abstract：:The high iron demand associated with enhanced erythropoiesis during high-altitude hypoxia leads to skeletal muscle iron mobilization and decrease in myoglobin protein levels. To investigate the effect of enhanced erythropoiesis on systemic and muscle iron metabolism under nonhypoxic conditions, 8 healthy volunteers we...

    journal_title：Blood

    pub_type： 临床试验,杂志文章

    doi：10.1182/blood-2008-09-178095

    authors： Robach P,Recalcati S,Girelli D,Gelfi C,Aachmann-Andersen NJ,Thomsen JJ,Norgaard AM,Alberghini A,Campostrini N,Castagna A,Viganò A,Santambrogio P,Kempf T,Wollert KC,Moutereau S,Lundby C,Cairo G

    更新日期：2009-06-25 00:00:00

  • Glycoprotein IV-independent adhesion of sickle red blood cells to immobilized thrombospondin under flow conditions.

    abstract：:The abnormal adherence of red blood cells (RBC to the blood vessel wall is believed to contribute to the vascular occlusion observed in patients with sickle call anemia. The cell adhesion receptors GPIV (CD36) and integrin alpha 4 beta 1 (CD49d/CD29) were previously identified on circulating sickle reticulocytes, and ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Joneckis CC,Shock DD,Cunningham ML,Orringer EP,Parise LV

    更新日期：1996-06-01 00:00:00

  • The small 11 kDa nonstructural protein of human parvovirus B19 plays a key role in inducing apoptosis during B19 virus infection of primary erythroid progenitor cells.

    abstract：:Human parvovirus B19 (B19V) infection shows a strong erythroid tropism and drastically destroys erythroid progenitor cells, thus leading to most of the disease outcomes associated with B19V infection. In this study, we systematically examined the 3 B19V nonstructural proteins, 7.5 kDa, 11 kDa, and NS1, for their funct...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2009-04-215756

    authors： Chen AY,Zhang EY,Guan W,Cheng F,Kleiboeker S,Yankee TM,Qiu J

    更新日期：2010-02-04 00:00:00

  • Familial and congenital polycythemia in three unrelated families.

    abstract：:Three families with polycythemia inherited through apparently different modes are described. Secondary causes of polycythemia were ruled out. Erythropoietin (EPO) levels were normal or low, even after phlebotomy. In vitro erythroid colony growth in standard assay cultures containing EPO was normal; however, in the abs...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Emanuel PD,Eaves CJ,Broudy VC,Papayannopoulou T,Moore MR,D'Andrea AD,Prchal JF,Eaves AC,Prchal JT

    更新日期：1992-06-01 00:00:00

  • Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

    abstract：:Fanconi anemia (FA) is a genetic disease characterized by congenital abnormalities, bone marrow failure, and susceptibility to leukemia and other cancers. FANCJ, one of 13 genes linked to FA, encodes a DNA helicase proposed to operate in homologous recombination repair and replicational stress response. The pathogenic...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2009-11-256016

    authors： Wu Y,Sommers JA,Suhasini AN,Leonard T,Deakyne JS,Mazin AV,Shin-Ya K,Kitao H,Brosh RM Jr

    更新日期：2010-11-11 00:00:00

  • Aspirin and salicylate induce apoptosis and activation of caspases in B-cell chronic lymphocytic leukemia cells.

    abstract：:We analyzed the effect of aspirin, salicylate, and other nonsteroidal antiinflammatory drugs (NSAIDs) on the viability of B-chronic lymphocytic leukemia (B-CLL) cells. Aspirin induced a decrease in cell viability in a dose- and time-dependent manner. The mean IC50 for cells from 5 patients was 5.9 +/- 1.13 mmol/L (ran...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Bellosillo B,Piqué M,Barragán M,Castaño E,Villamor N,Colomer D,Montserrat E,Pons G,Gil J

    更新日期：1998-08-15 00:00:00

  • Dual role for RhoA in suppression and induction of cytokines in the human neutrophil.

    abstract：:Production of tumor necrosis factor-alpha (TNFalpha) by the neutrophil (PMN) is a pivotal event in innate immunity, but the signals regulating TNFalpha induction in this primary cell are poorly understood. Herein, we use protein transduction to identify novel, opposing anti- and pro-cytokine-inducing roles for RhoA in...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2006-03-012898

    authors： Fessler MB,Arndt PG,Just I,Nick JA,Malcolm KC,Worthen GS

    更新日期：2007-02-01 00:00:00

  • The FLT3 ligand is a direct and potent stimulator of the growth of primitive and committed human CD34+ bone marrow progenitor cells in vitro.

    abstract：:The present studies investigated the effects of the recently cloned flt3 ligand (FL) on the in vitro growth and differentiation of primitive and committed subsets of human CD34+ bone marrow (BM) progenitor cells. FL alone was a weak growth stimulator of CD34+ BM cells, but synergistically and directly enhanced colony ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Rusten LS,Lyman SD,Veiby OP,Jacobsen SE

    更新日期：1996-02-15 00:00:00

  • The PI3K/mTOR inhibitor PF-04691502 induces apoptosis and inhibits microenvironmental signaling in CLL and the Eµ-TCL1 mouse model.

    abstract：:Current treatment strategies for chronic lymphocytic leukemia (CLL) involve a combination of conventional chemotherapeutics, monoclonal antibodies, and targeted signaling inhibitors. However, CLL remains largely incurable, with drug resistance and treatment relapse a common occurrence, leading to the search for novel ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2014-11-610329

    authors： Blunt MD,Carter MJ,Larrayoz M,Smith LD,Aguilar-Hernandez M,Cox KL,Tipton T,Reynolds M,Murphy S,Lemm E,Dias S,Duncombe A,Strefford JC,Johnson PW,Forconi F,Stevenson FK,Packham G,Cragg MS,Steele AJ

    更新日期：2015-06-25 00:00:00

  • Superficial venous thrombosis: recognizing the risk.

    abstract：:In this issue of Blood, Roach and colleagues show that individuals with prior superficial venous thrombosis are at increased risk of developing venous thromboembolism when exposed to acquired clinical risk factors. ...

    journal_title：Blood

    pub_type： 评论,杂志文章

    doi：10.1182/blood-2013-11-537019

    authors： Bates SM

    更新日期：2013-12-19 00:00:00

  • Update on clinical gene therapy for hemophilia.

    abstract：:In contrast to other diverse therapies for the X-linked bleeding disorder hemophilia that are currently in clinical development, gene therapy holds the promise of a lasting cure with a single drug administration. Near-to-complete correction of hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficienc...

    journal_title：Blood

    pub_type： 杂志文章,评审

    doi：10.1182/blood-2018-07-820720

    authors： Perrin GQ,Herzog RW,Markusic DM

    更新日期：2019-01-31 00:00:00

  • Identification of a leukocyte alloantigen with a high-frequency expression in leukemia patients.

    abstract：:In this report we describe the production and characterization of a monoclonal antibody to the human promyelocytic leukemia cell line HL-60. The antibody, NC-2, is of the IgG1 subclass and precipitates a 50-Kd protein from 125I-labeled HL-60 cells. The antigen is insensitive to treatment with trypsin, papain, or neura...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： O'Connor R,Bradley JG,O'Meara A,Cotter TG

    更新日期：1989-02-01 00:00:00

  • Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel.

    abstract：:Despite major improvements in outcome over the past decades, acute myeloid leukemia (AML) remains a life-threatening malignancy in children, with current survival rates of ∼70%. State-of-the-art recommendations in adult AML have recently been published in this journal by Döhner et al. The primary goal of an internatio...

    journal_title：Blood

    pub_type： 杂志文章,评审

    doi：10.1182/blood-2012-03-362608

    authors： Creutzig U,van den Heuvel-Eibrink MM,Gibson B,Dworzak MN,Adachi S,de Bont E,Harbott J,Hasle H,Johnston D,Kinoshita A,Lehrnbecher T,Leverger G,Mejstrikova E,Meshinchi S,Pession A,Raimondi SC,Sung L,Stary J,Zwaan CM,K

    更新日期：2012-10-18 00:00:00

  • Inflammation rapidly reorganizes mouse bone marrow B cells and their environment in conjunction with early IgM responses.

    abstract：:Systemic inflammation perturbs the bone marrow environment by evicting resident B cells and favoring granulopoiesis over lymphopoiesis. Despite these conditions, a subset of marrow B cell remains to become activated and produce potent acute immunoglobulin M (IgM) responses. This discrepancy is currently unresolved and...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2015-03-635805

    authors： Moreau JM,Berger A,Nelles ME,Mielnik M,Furlonger C,Cen SY,Besla R,Robbins CS,Paige CJ

    更新日期：2015-09-03 00:00:00

  • Nanomolar concentration of NSC606985, a camptothecin analog, induces leukemic-cell apoptosis through protein kinase Cdelta-dependent mechanisms.

    abstract：:As a promising new class of anticancer drugs, camptothecins have advanced to the forefront of several areas of therapeutic and developmental chemotherapy. In the present study, we report that NSC606985, a rarely studied camptothecin analog, induces apoptosis in acute myeloid leukemia (AML) cells NB4 and U937 and inhib...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2004-10-4011

    authors： Song MG,Gao SM,Du KM,Xu M,Yu Y,Zhou YH,Wang Q,Chen Z,Zhu YS,Chen GQ

    更新日期：2005-05-01 00:00:00

  • Distinctive localization of antigen-presenting cells in human lymph nodes.

    abstract：:Professional antigen-presenting cells (APCs) are sentinel cells of the immune system that present antigen to T lymphocytes and mediate an appropriate immune response. It is therefore surprising that knowledge of the professional APCs in human lymph nodes is limited. Using 3-color immunohistochemistry, we have identifi...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2008-06-165266

    authors： Angel CE,Chen CJ,Horlacher OC,Winkler S,John T,Browning J,MacGregor D,Cebon J,Dunbar PR

    更新日期：2009-02-05 00:00:00

  • The early activation of memory B cells from Wiskott-Aldrich syndrome patients is suppressed by CD19 downregulation.

    abstract：:Wiskott-Aldrich syndrome (WAS) pediatric patients exhibit a deficiency in humoral immune memory. However, the mechanism by which Wiskott-Aldrich syndrome protein (WASP) regulates the differentiation and activation of memory B cells remains elusive. Here we examine the early activation events of memory B cells from the...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2016-03-703579

    authors： Bai X,Zhang Y,Huang L,Wang J,Li W,Niu L,Jiang H,Dai R,Zhou L,Zhang Z,Miller H,Song W,Zhao X,Liu C

    更新日期：2016-09-29 00:00:00

  • Targeting neovascularization in GVHD.

    abstract：:In this issue of Blood, Leonhardt et al report that neovascularization during graft-versus-host disease (GVHD) is regulated by av integrins and the micro RNA miR-100. ...

    journal_title：Blood

    pub_type： 评论,杂志文章

    doi：10.1182/blood-2013-01-480483

    authors： Komanduri KV

    更新日期：2013-04-25 00:00:00

  • A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding.

    abstract：:Antithrombotic therapies reduce cardiovascular diseases by preventing arterial thrombosis and thromboembolism, but at expense of increased bleeding risks. Arterial thrombosis studies using genetically modified mice have been invaluable for identification of new molecular targets. Because of low sample sizes and hetero...

    journal_title：Blood

    pub_type： 杂志文章,评审

    doi：10.1182/blood-2018-02-831982

    authors： Baaten CCFMJ,Meacham S,de Witt SM,Feijge MAH,Adams DJ,Akkerman JN,Cosemans JMEM,Grassi L,Jupe S,Kostadima M,Mattheij NJA,Prins MH,Ramirez-Solis R,Soehnlein O,Swieringa F,Weber C,White JK,Ouwehand WH,Heemskerk JWM

    更新日期：2018-12-13 00:00:00

  • flt3 ligand in cooperation with transforming growth factor-beta1 potentiates in vitro development of Langerhans-type dendritic cells and allows single-cell dendritic cell cluster formation under serum-free conditions.

    abstract：:Using a recently described serum-free culture system of purified human CD34+ progenitor cells, we show here a critical cooperation of flt3 ligand (FL) with transforming growth factor-beta1 (TGF-beta1) in the induction of in vitro dendritic cell/Langerhans cell (DC/LC) development. The addition of FL to serum-free cult...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Strobl H,Bello-Fernandez C,Riedl E,Pickl WF,Majdic O,Lyman SD,Knapp W

    更新日期：1997-08-15 00:00:00

  • Genetic variation responsible for mouse strain differences in integrin alpha 2 expression is associated with altered platelet responses to collagen.

    abstract：:As mouse models have become commonplace for studying hemostasis and thrombosis, we considered whether the mouse system had utility for assessing genetic alterations in platelet receptors. Platelets from 5 mouse strains (C57BL/6 [C57], FVB/N [FVB], BALB/c, C3H/He, and 129Sv) showed only minor differences in the express...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2003-10-3721

    authors： Li TT,Larrucea S,Souza S,Leal SM,López JA,Rubin EM,Nieswandt B,Bray PF

    更新日期：2004-05-01 00:00:00

  • Erythrocyte sialoglycoproteins engage Siglec-9 on neutrophils to suppress activation.

    abstract：:Healthy blood neutrophils are functionally quiescent in the bloodstream, have a short lifespan, and exit the circulation to carry out innate immune functions, or undergo rapid apoptosis and macrophage-mediated clearance to mitigate host tissue damage. Limitation of unnecessary intravascular neutrophil activation is al...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2016-11-751636

    authors： Lizcano A,Secundino I,Döhrmann S,Corriden R,Rohena C,Diaz S,Ghosh P,Deng L,Nizet V,Varki A

    更新日期：2017-06-08 00:00:00

  • Role of arginine residues in the coagulant activity of high molecular weight kininogen.

    abstract：:High molecular weight (HMW) kininogen, the cofactor for activation of the contact system of plasma proteolysis, transports and optimally positions prekallikrein and factor XI on a negatively charged surface, allowing those zymogens to be activated by surface-bound factor XIIa. HMW kininogen circulates in plasma as a p...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Chang JJ,Scott CF,Colman RW

    更新日期：1986-03-01 00:00:00

  • A possible autocrine role for interleukin-6 in two lymphoma cell lines.

    abstract：:Interleukin-6 (IL-6) is a growth factor with diverse biologic activity. Originally described as a T-cell product that enhances immunoglobulin (Ig) secretion in antigen-stimulated B cells, it also affects the growth of T cells, plasmacytomas, hybridomas, and hematopoietic stem cells. We report the expression and secret...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Yee C,Biondi A,Wang XH,Iscove NN,de Sousa J,Aarden LA,Wong GG,Clark SC,Messner HA,Minden MD

    更新日期：1989-08-01 00:00:00

  • Monovalent Fc receptor blockade by an anti-Fcγ receptor/albumin fusion protein ameliorates murine ITP with abrogated toxicity.

    abstract：:Patients with immune thrombocytopenia (ITP) commonly have antiplatelet antibodies that cause thrombocytopenia through Fcγ receptors (FcγRs). Antibodies specific for FcγRs, designed to inhibit antibody-FcγR interaction, had been shown to improve ITP in refractory human patients. However, the development of such FcγR-sp...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2015-08-664656

    authors： Yu X,Menard M,Prechl J,Bhakta V,Sheffield WP,Lazarus AH

    更新日期：2016-01-07 00:00:00

  • Correction of abnormal T-cell receptor repertoire during interferon-alpha therapy in patients with hairy cell leukemia.

    abstract：:Patients with the B-cell malignancy hairy cell leukemia (HCL) exhibit a skewed T-cell repertoire with oligoclonal expression or absence of many members of the T-cell receptor (TCR) BV gene families. To evaluate whether interferon-alpha (IFN-alpha) therapy would not only restore normal hematopoiesis, but also the abnor...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Kluin-Nelemans HC,Kester MG,van deCorput L,Boor PP,Landegent JE,van Dongen JJ,Willemze R,Falkenburg JH

    更新日期：1998-06-01 00:00:00

  • Identification of a gene expression signature associated with pediatric AML prognosis.

    abstract：:Most patients with acute myeloid leukemia (AML) enter complete remission (CR) after treatment with chemotherapy, but a large number of them experience relapse with resistant disease. To identify genes that are associated with their prognoses, we analyzed gene expression in 54 pediatric patients with AML using an oligo...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2003-02-0578

    authors： Yagi T,Morimoto A,Eguchi M,Hibi S,Sako M,Ishii E,Mizutani S,Imashuku S,Ohki M,Ichikawa H

    更新日期：2003-09-01 00:00:00