Abstract:
PURPOSE OF REVIEW:Technical possibilities to screen for inborn errors of immune function at the neonatal stage have been rapidly progressing, whereas the guidelines that apply for the evaluation of benefits and concerns on expanding screening panels have not been broadly discussed for primary immunodeficiency diseases (PID). This review reflects on the assessment of severe combined immunodeficiencies (SCID), primary agammaglobulinaemias (such as X-linked agammaglobulinaemia) and inherited haemophagocytic syndromes (such as familial haemophagocytic lymphohistiocytosis) to be included in newborn screening (NBS) programmes. RECENT FINDINGS:Screening programmes in several federal states in the United States have been supplemented with the T-cell receptor excision circle assay during the past few years to identify children with SCID. The reported experience indicates that an efficient and validated screening approach for SCID is feasible on a population-based scale. SUMMARY:In the light of recent advances, severe PID ought to be discussed for their rapid implementation in national NBS programmes based upon clinical, social and economical criteria as consolidated in the extended 22-item Wilson-Jungner framework. Although SCID currently most favourably fulfils these screening guidelines, other strong candidates can be identified among primary immunodeficiency disorders. Future efforts of healthcare professionals and policy makers are essential to improve the concept of neonatal screening for PID.
journal_name
Curr Opin Hematoljournal_title
Current opinion in hematologyauthors
Borte S,von Döbeln U,Hammarström Ldoi
10.1097/MOH.0b013e32835a9130subject
Has Abstractpub_date
2013-01-01 00:00:00pages
48-54issue
1eissn
1065-6251issn
1531-7048journal_volume
20pub_type
杂志文章,评审abstract::Within the past year substantial progress has been made in understanding the molecular changes underlying the development of acute leukemia. Development of molecular probes allowed substantial improvements in the detection of minimal residual disease. Pilot studies underlined the correlation between the expression of ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:
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abstract::Endothelial cell invasion is an essential event during angiogenesis (the formation of new blood vessels). This process involves the degradation of the extracellular matrix, the basement membrane, and interstitial stroma, and is governed by the activation of matrix metalloproteinases. However, the contribution of matri...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200303000-00007
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abstract::This overview concentrates on familial and congenital polycythemias in the context of other polycythemic disorders, with emphasis on those with established molecular lesions. Recent advances in the regulation of erythropoiesis, as they may relate to polycythemic states, are discussed as a background for those well-def...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199903000-00008
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abstract::The idea that blood in naturally occurring transmissible spongiform encephalopathies is not infectious has imploded in the face of recent transmissions from the blood of naturally occurring scrapie in sheep and of variant Creutzfeldt-Jakob disease in humans. Although donor exclusion criteria ensure that the number of ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000143393.49202.f0
更新日期:2004-09-01 00:00:00
abstract:PURPOSE OF REVIEW:In the postnatal life, hematopoietic stem cell (HSC) niches are specialized microenvironments in the bone marrow that are essential for the maintenance and function of HSCs. The purpose of this review is to discuss the concept of HSC niche in light of recent studies that broaden its complexity and bet...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32833a25d8
更新日期:2010-07-01 00:00:00
abstract:PURPOSE OF REVIEW:This review discusses the rationale, efficacy, and toxicity of a variety of immune approaches being evaluated in the therapy of acute myeloid leukemia (AML) including naked and conjugated monoclonal antibodies, bispecific T-cell engager antibodies, and immune checkpoint blockade via antibodies targeti...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000401
更新日期:2018-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite improvements in the achievement of complete remission and progress in the supportive care of adults with acute lymphoblastic leukemia during the last decade, the majority of patients have eventually relapsed with overall survival in adult acute lymphoblastic leukemia of only 30-40%. However, t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283034697
更新日期:2008-07-01 00:00:00
abstract::Acute chest syndrome (ACS) is the presence of a new pulmonary infiltrate in combination with fever or respiratory symptoms in a patient with sickle cell disease. ACS is the leading cause of death in sickle cell disease, and many patients suffer from multiple, severe episodes. Age has a striking effect on the clinical ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199803000-00002
更新日期:1998-03-01 00:00:00
abstract:PURPOSE OF REVIEW:This article reviews recent publications that bear on the evidential basis for therapeutic apheresis in diseases in which hemolytic anemia is a prominent feature. RECENT FINDINGS:Therapeutic plasma exchange continues to be reported sporadically in severe autoimmune hemolytic anemia, with inconsistent...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3282c8ca66
更新日期:2007-11-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes recent advances in the application of minimal residual disease (MRD) testing in childhood acute lymphoblastic leukemia (ALL). RECENT FINDINGS:Polymerase chain reaction amplification of antigen receptor genes, one of the two main methods to study MRD in ALL, could be made more r...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e3283543d5c
更新日期:2012-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Clonal heterogeneity is a significant obstacle to successful treatment of patients with acute myeloid leukemia (AML). Here, we review new advances in the understanding of genetic heterogeneity in AML using single-cell DNA-sequencing technology. RECENT FINDINGS:New genomics and immunologic discovery t...
journal_title:Current opinion in hematology
pub_type: 杂志文章
doi:10.1097/MOH.0000000000000626
更新日期:2021-01-01 00:00:00
abstract::Cytomegalovirus (CMV) infection remains a major cause of morbidity and mortality in recipients of an allogeneic stem cell transplant (SCT). Due to the broad application of antiviral prophylaxis and preemptive therapy, a decrease in early-onset and a subsequent increase in late-onset CMV disease has been observed. New ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199811000-00022
更新日期:1998-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Mortality and morbidity associated with leukemia are largely due to frequently occurring cytopenias or the dysfunction of normal blood cells in patients. Our knowledge of how normal blood cells degenerate in response to leukemic cell infiltration has been quite limited. This review summarizes recent f...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000253
更新日期:2016-07-01 00:00:00
abstract:PURPOSE OF REVIEW:To review the data on angiogenesis related to exosomes secreted by tumor cells in hematologic neoplasia and to elucidate the role of exosomes and exosomal miRNA in the bone marrow microenvironment, especially under hypoxic conditions. RECENT FINDINGS:Cross-talk between bone marrow tumor cells and sur...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000235
更新日期:2016-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Gfi-1, originally identified as a transcriptional repressor in lymphoid cells, is now recognized to have essential, independent functions in neutrophil maturation and hematopoietic stem cell biology. Here we review recent studies pertaining to Gfi-1 and its cell context specific functions in hematopoi...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000190111.85284.8f
更新日期:2006-01-01 00:00:00
abstract::Much of our understanding of the organization of the cells that comprise the hematopoietic system and the cellular and molecular mechanisms that regulate their development is derived from mouse models. However, knowledge of the human hematopoietic system and identification of human stem cells have, until recently, bee...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199603060-00002
更新日期:1996-11-01 00:00:00
abstract::Anemia is a common disorder in patients with cancer and can be caused by the disease itself or by cancer-related therapy. The cardinal symptom of anemia, fatigue, is the most commonly reported symptom in patients with cancer and has profound effects on patient well-being and quality of life. Until recently, blood tran...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200205000-00010
更新日期:2002-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000338
更新日期:2017-05-01 00:00:00
abstract::Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502050-00006
更新日期:1995-09-01 00:00:00
abstract:PURPOSE OF REVIEW:In this article, we summarize the recent advances in treating primary immune deficiency (PID) disorders by stem cell transplantation (SCT); we have focused on articles published in the past 2 years since the last major review of SCT for PID. RECENT FINDINGS:Analyses of the outcomes of SCT for PID by ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e328365a13b
更新日期:2013-11-01 00:00:00
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journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-200003000-00009
更新日期:2000-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Type 1 von Willebrand disease (VWD) is the most common form of VWD, but has remained [corrected] the least well understood. Recent work is changing this situation. This review summarizes recent analysis of the genetic basis of the disease. RECENT FINDINGS:Linkage analysis demonstrates that dominantly...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32826f4b41
更新日期:2007-09-01 00:00:00
abstract:PURPOSE OF REVIEW:This review focuses on recent advances in the use of immune-based therapy to treat patients with refractory and relapsing acquired thrombotic thrombocytopenic purpura. RECENT FINDINGS:Advances in understanding of the pathophysiology of idiopathic thrombotic thrombocytopenic purpura have provided the ...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000170534.33517.99
更新日期:2005-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Galectins, a family of evolutionarily conserved glycan-binding proteins, are involved in the regulation of multiple cellular processes (e.g. immunity, apoptosis, cellular signaling, development, angiogenesis and cellular growth) and diseases (e.g. chronic inflammation, autoimmunity, cancer, infection)...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32834bab18
更新日期:2011-11-01 00:00:00
abstract::In 1994 four biotechnology research groups reported the isolation and cloning of the ligand for the cytokine receptor c-Mpl and showed it to be the long-sought regulator of platelet production, thrombopoietin. Thrombopoietin is a hematopoietic growth factor of 332 amino acids composed of an amino terminal domain homol...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502030-00002
更新日期:1995-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Hematopoietic stem cells (HSCs) possess two fundamental characteristics, the capacity for self-renewal and the sustained production of all blood cell lineages. The fine balance between HSC expansion and lineage specification is dynamically regulated by the interplay between external and internal stimu...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0000000000000260
更新日期:2016-07-01 00:00:00
abstract::Human immunodeficiency virus infection causes multilineage hematopoietic defects. Defects in the production and function of CD4+ helper cells have been the focus of the majority of HIV research, but anemia, neutropenia, and thrombocytopenia are significant clinical problems as well. Bone marrow suppression is the dose...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/00062752-199502030-00012
更新日期:1995-05-01 00:00:00
abstract::Stem cell factor (SCF) is a multipotent growth factor that plays a role in the growth and development of hematopoietic cells, spermatocytes, melanocytes, and mast cells. SCF alone has little direct stimulatory activity on hematopoietic progenitors but acts synergistically with other colony-stimulating factors to poten...
journal_title:Current opinion in hematology
pub_type: 杂志文章
doi:10.1097/00062752-199704030-00001
更新日期:1997-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The leukocyte adhesion deficiency (LAD) syndromes are rare genetically determined conditions with challenging clinical features. These immunodeficiencies also provide insights that are broadly relevant to the biology of leukocytes, platelets, intercellular interactions, and intracellular signaling. Re...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/MOH.0b013e32835a0091
更新日期:2013-01-01 00:00:00
abstract:PURPOSE OF REVIEW:Hematopoietic cell transplantation offers potentially curative therapy for patients with myelodysplastic syndrome. The median patient age at diagnosis, however, is about 70 years, which has limited the application of conventional hematopoietic cell transplantation. In addition, the optimum timing of t...
journal_title:Current opinion in hematology
pub_type: 杂志文章,评审
doi:10.1097/01.moh.0000208466.63861.9f
更新日期:2006-03-01 00:00:00