Abstract:
:The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease characterized by infections, bleeding tendency, and eczema. Today, it is well recognized that the syndrome has a wide clinical spectrum ranging from mild, isolated thrombocytopenia to full-blown presentation that can be complicated by life-threatening hemorrhages, immunodeficiency, atopy, autoimmunity, and cancer. The pathophysiology of classic and emerging features is being elucidated by clinical studies, but remains incompletely defined, which hinders the application of targeted therapies. At the same time, progress of hematopoietic stem cell transplantation and gene therapy offer optimistic prospects for treatment options aimed at the replacement of the defective lymphohematopoietic system that have the potential to provide a cure for this rare and polymorphic disease.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Candotti Fdoi
10.1007/s10875-017-0453-zsubject
Has Abstractpub_date
2018-01-01 00:00:00pages
13-27issue
1eissn
0271-9142issn
1573-2592pii
10.1007/s10875-017-0453-zjournal_volume
38pub_type
杂志文章,评审abstract::Common variable immune deficiency (CVID) B cells have impaired responses to TLR7 and TLR9 agonists including poor cell proliferation, loss of cytokine production, and failure to produce IgG or IgA. We show that TLR7- or 9-activated B cells from CVID subjects with >0.5% peripheral isotype-switched CD27(+) B cells (grou...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9602-y
更新日期:2012-02-01 00:00:00
abstract::Bias in cytokine responses has been proposed as a contributing mechanism to pathogenesis in persistent HIV or hepatitis C virus (HCV) infections. We investigated whether coinfection with HCV modifies the profile of antigen-specific cytokine secretion in women persistently infected with HIV compared to women with singl...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-005-2819-x
更新日期:2005-03-01 00:00:00
abstract:INTRODUCTION:Systemic lupus erythematosus (SLE) is a systemic autoimmune disease associated with aberrant activation of T and B lymphocytes. Abnormal activation of intracellular signaling molecules in lymphocytes by inflammatory cytokines can instigate the inflammation in SLE. MATERIALS AND METHODS:The activation of e...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9318-4
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to determine when during hematopoiesis Siglec-8 gets expressed, whether it is expressed on hematologic malignancies, and if there are other non-human species that express Siglec-8. METHODS:Siglec-8 mRNA and cell surface expression was monitored during in vitro maturation of human eos...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9589-4
更新日期:2011-12-01 00:00:00
abstract::The aim of this study was to research the expression of IL-37 in systemic lupus erythematosus (SLE) patients and the effect of glucocorticoid on IL-37. Thirty newly diagnosed severe SLE patients receiving prednisone 1 mg/kg/day for 14 consecutive days and 30 healthy subjects were enrolled into this study. The plasma l...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9791-z
更新日期:2013-01-01 00:00:00
abstract:PURPOSE:Hemophagocytic lymphohistiocytosis (HLH) is a rare systematic immune disease manifested with excessive activation of lymphocytes and macrophages. This study was designed to explore the feasible prognostic factors of secondary HLH (sHLH). METHOD:We retrospectively analyzed 179 patients with newly diagnosed sHLH...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00801-x
更新日期:2020-07-01 00:00:00
abstract::Anesthetic drugs can influence the immune system, particularly granulocyte function. The goal of the present study was to evaluate if lidocaine used for epidural anesthesia during cesarean section can influence neonatal neutrophil chemotaxis. We measured chemotaxis and plasma cord lidocaine and cortisol levels in (A) ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1020583022614
更新日期:1998-05-01 00:00:00
abstract:PURPOSE:Health-related quality of life (HRQOL) has not been examined in patients with predominant antibody deficiency both pre- and post-immunoglobulin G (IgG) treatment initiation. HRQOL and health resource utilization (HRU) were assessed in newly diagnosed patients with primary immunodeficiency disease (PIDD) pre- an...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-016-0279-0
更新日期:2016-07-01 00:00:00
abstract::Glucocorticoids (GC) represent the main treatment for pemphigus; however, some patients show GC resistance. GC sensitivity was evaluated in 19 pemphigus patients and 41 controls by the number of binding sites [B(max) (fmol/mg protein)] and the affinity of GC receptor [Kd (nM)] to dexamethasone (DEX) as well as by the ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9679-y
更新日期:2012-08-01 00:00:00
abstract::We have evaluated the functional properties of the OK-T8+/OKT4+ T-cell subpopulations in nine patients with a new syndrome of acquired immune deficiency (AIDS). Despite polyclonal hypergammaglobulinemia in the sera of these patients, their peripheral blood lymphocytes (PBL) produced negligible quantities of immunoglob...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915797
更新日期:1983-10-01 00:00:00
abstract:INTRODUCTION:The molecular and cellular interactions between the immune system and bone tissue have been established. Sex hormone deficiency after menopause has multifunctional role by influencing growth, differentiation, and metabolism of the skeletal and the immune system. DISCUSSION:We have used nonparametric and m...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9321-9
更新日期:2009-11-01 00:00:00
abstract::Light chain amyloidosis (AL) is a protein folding disorder with an underlying B cell neoplasia where the monoclonal immunoglobulin light chains (LCs) produced from insoluble amyloid fibrils. The deposition of these fibrillar aggregates in vital organs causes severe organ dysfunction over time and is associated with hi...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/B:JOCI.0000029113.68758.9f
更新日期:2004-07-01 00:00:00
abstract::Deficient DNA mismatch repair results in microsatellite instability and might induce shifts of translational reading frames of genes encompassing coding microsatellites. These may be translated in truncated proteins, including neo-peptide tails functioning as tumor rejection antigens, when presented in the context of ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1025329819121
更新日期:2003-09-01 00:00:00
abstract::Catecholamines have been suggested to be responsible for altered cellular immunity after stress. This study was performed to determine the effects of adrenaline and noradrenaline on lymphocyte subpopulations and NK cell functions. Subjects were given a subcutaneous injection of either NaCl, adrenaline (5 micrograms/kg...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00920243
更新日期:1993-09-01 00:00:00
abstract:BACKGROUND:Chronic granulomatous disease (CGD) is characterized by mutation in any one of the five genes coding NADPH oxidase components that leads to functional abnormality preventing the killing of phagocytosed microbes by affecting the progression of a respiratory burst. CGD patients have an increased susceptibility...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-018-0567-y
更新日期:2018-11-01 00:00:00
abstract:PURPOSE:Severe Combined Immune Deficiency (SCID) is universally fatal unless treated with hematopoietic stem cell transplantation (HSCT). Following the identification of disseminated Bacille Calmette-Guérin (BCG) infections in Canadian First Nations, Métis and Inuit (FNMI) children with unrecognized primary immune defi...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-013-9952-8
更新日期:2013-11-01 00:00:00
abstract::Adoptive immunotherapy with in vitro expanded cytotoxic T lymphocytes specific for Epstein-Barr virus (EBV) can successfully treat post-transplant lymphoproliferative disease (PTLD). However, extension of a similar strategy to Hodgkin's disease (HD) and nasopharyngeal carcinoma (NPC) is limited by the poor immunogenic...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-006-6532-1
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:We used proteomic analyses to assess how drug abuse modulates immunologic responses to infections with the human immunodeficiency virus type 1 (HIV-1). METHODS:Two-dimensional difference gel electrophoresis was utilized to determine changes in the proteome of peripheral blood mononuclear cells (PBMC) isol...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9309-5
更新日期:2009-09-01 00:00:00
abstract:PURPOSE:Chronic granulomatous disease (CGD) is a primary immunodeficiency for which allogeneic hematopoietic stem cell transplant (HSCT) offers potential cure. Direct comparison of HSCT to non-HSCT management in the North American population was performed to identify clinical factors associated with overall survival (O...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-00635-2
更新日期:2019-05-01 00:00:00
abstract::Skin window techniques to investigate neutrophil inflammatory reactions in human skin have been limited by cellular distortion and difficulties in quantitation. We have developed a quantitative approach based on the assessment of the myeloperoxidase (MPO) released from sonicated membrane filters to which exuding infla...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00919143
更新日期:1983-01-01 00:00:00
abstract::In this retrospective study 103 serum samples from 16 females with systemic lupus erythematosus (SLE), obtained during a mean follow-up time of 2 years, were investigated for the presence of anti-denatured [single-stranded (ss)] DNA antibodies of the IgG, IgM, and IgA classes. The anti-ssDNA antibodies were determined...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918250
更新日期:1985-09-01 00:00:00
abstract::Chemotherapeutic agent is characterized by its concentration in tumor cells with minimum side effects. Oleandrin, a polyphenolic cardiac glycoside is known to induce apoptosis in tumor cells. However, no report is available on its efficacy in primary cells. In this report we are providing the evidence that oleandrin i...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,收录出版
doi:10.1007/s10875-006-9028-0
更新日期:2006-07-01 00:00:00
abstract::Administration of a tumor necrosis factor (TNF) inhibitor-encoding adenoviral vector decreases the severity of colonic inflammation in a DBA/2-->B6D2F1 murine model of colonic graft-versus-host disease (GVHD). The present studies evaluated the effect of TNF blockade on the splenic and colonic T-cell responses. cDNA en...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1006676315093
更新日期:2000-09-01 00:00:00
abstract::MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-015-0129-5
更新日期:2015-02-01 00:00:00
abstract::Rapidly progressive glomerulonephritis (RPGN) is characterized by rapid and progressive loss of renal function and the presence of crescentic glomerulonephritis (CGN). Early diagnosis and appropriate treatment is mandatory to prevent death and/or renal failure. We have evaluated an ANCA-GBM dot-blot diagnostic test in...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/B:JOCI.0000029115.79266.ae
更新日期:2004-07-01 00:00:00
abstract:PURPOSE:To elucidate the relative role of the immune system and intestinal epithelium in the ethiopatogenesis of Celiac disease (CD). METHODS:A patient with childhood CD who underwent allogeneic bone marrow transplantation (BMT) for chronic myelogenous leukemia was followed for 5 years after resumption of gluten conta...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-013-9943-9
更新日期:2013-11-01 00:00:00
abstract:PURPOSE:Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical man...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-0594-3
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Several autoimmune disorders have been linked to adverse pregnancy outcome. IgA deficiency shares many autoimmune traits, but its association with pregnancy outcome is unknown. METHODS:Prospective population-based cohort study in Sweden of 613 mothers with IgA deficiency (IgA levels < .07 g/L) diagnosed in ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10875-014-0069-5
更新日期:2014-10-01 00:00:00
abstract::The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficie...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00842-2
更新日期:2020-11-01 00:00:00
abstract::During the last five decades, elegant mouse models of hematopoiesis have yielded most of the seminal insights into this complex biological system of self-renewal and lineage commitment. More recent advances in assays to measure human stem and progenitor cells as well as high resolution RNA profiling have revealed that...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-012-9844-3
更新日期:2013-05-01 00:00:00