Abstract:
:Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Furutani E,Newburger PE,Shimamura Adoi
10.1002/ajh.25374subject
Has Abstractpub_date
2019-03-01 00:00:00pages
384-393issue
3eissn
0361-8609issn
1096-8652journal_volume
94pub_type
杂志文章,评审abstract::ASXL1 and SRSF2 mutations in AML are frequently found in patients with preexisting myeloid malignancies and are individually associated with poor outcomes. In this multi-institutional retrospective analysis, we assessed the genetic features and clinical outcomes of 43 patients with ASXL1mut SRSF2mut AML and compared o...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.26110
更新日期:2021-01-27 00:00:00
abstract::Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The clinical features of sitosterolemia are xanthomas, premature atherosclerosis, arthritis, and, occasionally, liver function impair and hematologic abnormalities. This...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23619
更新日期:2014-03-01 00:00:00
abstract::Newly identified iron binding proteins isolated from rat duodenal homogenates permit better understanding of iron absorption. Mucins bind iron at acid pH to keep iron soluble and available for absorption at the more alkaline pH of the duodenum; this explains iron deficiency following prolonged achlorhydria. Integrin (...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.2830420114
更新日期:1993-01-01 00:00:00
abstract::Several studies provided evidence of a consistent antileukemic effect induced by cytomegalovirus (CMV) replication in acute myeloid leukemia (AML) patients receiving allogeneic hematopoietic stem cell transplantation (HSCT), however the use of antithymocyte globulin (ATG) as graft-versus-host disease prophylaxis, may ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23998
更新日期:2015-06-01 00:00:00
abstract::Seventeen adults received the antifibrinolytic drug tranexamic acid during cardiac surgery utilizing extracorporeal circulation (ECC). In 8 patients, drug administration began prior to skin incision (pre-ECC); infusions commenced after ECC and protamine administration in another 9 patients (post-ECC). Compared with th...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/ajh.2830380208
更新日期:1991-10-01 00:00:00
abstract::Autoantibody production following allogeneic stem-cell transplantation is common and is often ascribed to the immune dysregulation associated with graft-versus-host disease. Recent data suggests that donor-memory B cells can be reactivated on exposure to antigen and result in antibody production in the recipient ident...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20350
更新日期:2005-08-01 00:00:00
abstract::Compared to age-matched controls, cancer patients have increased risk of bleeding when treated with anticoagulation. However, there are little data regarding bleeding as it relates to anticoagulant choice and other risk factors. We evaluated the six-month incidence of bleeding among patients treated with anticoagulati...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25494
更新日期:2019-07-01 00:00:00
abstract::Polycythemia vera (PV) is a myeloproliferative disorder characterized by thrombotic and, less often, bleeding complications. Many mechanisms have been advanced to explain the occurrence of these complications, none of them satisfactory. We examined a cohort of 27 patients with PV, secondary erythrocytosis, and essenti...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199903)60:3<196::aid-ajh5>
更新日期:1999-03-01 00:00:00
abstract::Red cell ferritin was evaluated in 101 individuals with heterozygous beta-thalassemia to determine its clinical utility as an index for iron deficiency or overload in these subjects. The mean red cell ferritin for the total population was elevated threefold and showed a significant correlation with transferrin saturat...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830300403
更新日期:1989-04-01 00:00:00
abstract::Serum lactic dehydrogenase (LDH) levels are mildly elevated in beta-thalassemia major due to ineffective erythropoiesis. We reviewed the charts of 15 consecutive thalassemic children who underwent allogeneic, T-cell-depleted bone marrow transplantation (BMT) in our department during the last 3 years. Eleven patients h...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199602)51:2<166::AID-AJH13
更新日期:1996-02-01 00:00:00
abstract::We experienced two rare cases of pernicious anemia that presented in the course of mycosis fungoides in elderly males. Pernicious anemia has recently been reported to be caused by autoimmune gastritis that produces autoantibodies to gastric parietal cells and intrinsic factor. Immunological abnormalities in mycosis fu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199806)58:2<127::aid-ajh7>
更新日期:1998-06-01 00:00:00
abstract::Some patients suffering from malignancies may benefit of myeloablative chemotherapy followed by hematological reconstitution with autologous peripheral blood reinfusion. A quick evaluation of the number of hematopoietic progenitors present in leukapheresis blood samples is necessary to ensure the collection of a suffi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830390304
更新日期:1992-03-01 00:00:00
abstract::To investigate the mechanisms that modulate granulocyte-macrophage colony-stimulating activity (GM-CSA) and burst promoting activity (BPA) elaboration, we studied human peripheral blood-derived monocyte-macrophage (M0) and T-lymphocyte (TL) interaction. Coincubation of live M0 with autologous TL at a 1:3 ratio in the ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830120412
更新日期:1982-06-01 00:00:00
abstract::We have investigated the methods for the maintenance of a pregnancy in a patient with thrombotic thrombocytopenic purpura (TTP), said condition, since 1984, having been controlled by a plasma infusion every 3 to 4 weeks. In a preliminary trial it was confirmed that an infusion of the high molecular weight fraction (HM...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830350307
更新日期:1990-11-01 00:00:00
abstract::The Mo2 antibody recognizes a monocyte-specific cell surface antigen of unknown function. Upward modulation of Mo2 surface epitope density was demonstrated in response to 72-hr culture of monocytes with respiratory syncytial virus (RSV), but this was not seen after culture with phytohemagglutinin or other respiratory ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830250314
更新日期:1987-07-01 00:00:00
abstract::Evaluation of pharmacologic agents that stimulate fetal hemoglobin production has been done mainly in baboons and macaques. We investigated whether results in transgenic mice can predict the stimulation of fetal hemoglobin in primates, by testing gamma globin induction in response to a new ribonucleotide reductase inh...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830450208
更新日期:1994-02-01 00:00:00
abstract::Anemia is a major cause of morbidity and mortality among patients with sickle cell anemia. In this study, 108 episodes of severe anemia were prospectively evaluated in 108 patients with hemoglobin SS disease attending the pediatric sickle cell clinic of the University of Nigeria Teaching Hospital, Enugu, Nigeria. Youn...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10285
更新日期:2003-03-01 00:00:00
abstract::Chronic lymphocytic leukemia (CLL) is rarely complicated by chylothorax: we present a 93-year-old woman with CLL who developed recurrent pleural effusions that were ultimately found to be chylous in nature. Despite eight repeated thoracenteses, she continued to experience re-accumulation of fluid, and therefore, video...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10142
更新日期:2002-07-01 00:00:00
abstract::Immunologic studies were performed on mononuclear cells from ten chronically transfused children with sickle cell disease, and the results were compared with those from five other groups: 21 sickle cell patients who were not receiving regular transfusions, 6 chronically transfused children with other forms of refracto...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200106
更新日期:1985-09-01 00:00:00
abstract:BACKGROUND:T-cell lymphomas make up approximately 10%-15% of lymphoid malignancies. The frequency of these lymphomas varies geographically, with the highest incidence in parts of Asia. DIAGNOSIS:The diagnosis of aggressive peripheral T-cell lymphoma (PTCL) is usually made using the World Health Organization classifica...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24076
更新日期:2015-07-01 00:00:00
abstract::One of the more intriguing aspects of the spleen is the protection against certain bacterial infections afforded by its unique vascular and immune function. There have been extensive clinical surveys which indicate an incidence of overwhelming postsplenectomy infection (OPSI) above that of the disease for which the sp...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830020210
更新日期:1977-01-01 00:00:00
abstract::Heparin, employed clinically for more than 50 years, is still a widely used anticoagulant. Unfortunately, some patients given this agent develop thrombocytopenia and thrombosis. Because this side effect can have catastrophic consequences, it is imperative that all clinicians caring for patients who receive heparin hav...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.20490
更新日期:2006-01-01 00:00:00
abstract::Intravenous anti-D immune globulin (anti-D IGIV) is indicated for the treatment of immune thrombocytopenic purpura (ITP) in nonsplenectomized patients who are Rh(D)-positive. Recent reports have described episodes of intravascular hemolysis (IVH) and acute renal failure (ARF) after anti-D IGIV. We report the first adu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10432
更新日期:2003-12-01 00:00:00
abstract::Familial Pseudohyperkalemia (FP) is a dominant red cell trait characterized by increased serum [K(+)] in whole blood stored at or below room temperature, without additional hematological abnormalities. Functional gene mapping and sequencing analysis of the candidate genes within the 2q35-q36 critical interval identifi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23357
更新日期:2013-01-01 00:00:00
abstract::A patient with acute nonlymphoblastic leukemia (FAB M4), showing a near tetraploid chromosome complement on his marrow cells, was treated with low dose cytosine arabinoside and achieved remission. During remission the near tetraploid marrow chromosome complement disappeared and reappeared upon relapse of leukemia. The...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830190412
更新日期:1985-08-01 00:00:00
abstract::In southeast Asia, the carrier frequency of two-gene alpha-thalassemia deletions is quite high, ranging from 4% to 14% depending on the population. The most common alpha-thalassemia-1 deletion is the so-called southeast Asian deletion (--(SEA)). In addition, a significant proportion of cases involve two other deletion...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(200001)63:1<54::aid-ajh12>
更新日期:2000-01-01 00:00:00
abstract::Immune thrombocytopenia is frequently encountered in medical practice and is generally accepted as being caused by an IgG antibody. The capability of detecting platelet-bound IgG as a diagnostic and therapeutic modality is critical for appropriate care and management of patients with idiopathic thrombocytopenic purpur...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830090402
更新日期:1980-01-01 00:00:00
abstract::Extensive extralymphatic Hodgkin disease developed in a young man with common variable immunodeficiency manifested by hypogammaglobulinemia, recurrent sinopulmonary infections, and multiple autoimmune phenomena. Both humoral and cell-mediated immune dysfunction were present prior to treatment. After two cycles of chem...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830320212
更新日期:1989-10-01 00:00:00
abstract::Human theta (theta 1)-globin gene represents a member of the alpha-like globin gene family residing on chromosome 16. theta 1-Specific transcripts have been detected so far only in erythroid tissues and in erythroleukemia K562 cells. To investigate systematically its inducible expression and developmental specificity,...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830350406
更新日期:1990-12-01 00:00:00
abstract::Hydroxyurea is a drug that is used to treat some patients with sickle cell disease. We have measured the deformability of sickle erythrocytes incubated in hydroxyurea in vitro and found that hydroxyurea acts to decrease the deformability of these cells. The deformability of normal erythrocytes was not significantly af...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.1098
更新日期:2001-07-01 00:00:00