Abstract:
:Data collection for the national registry for patients with primary immunodeficiency disorders in the Republic of Ireland commenced in 1996. One hundred and fifteen cases of primary immunodeficiency diseases were registered between December 1996 and February 2003. The most frequent primary immunodeficiency disorders were antibody deficiency (n = 53) and complement deficiency (n = 32). In addition, patients with T cell deficiency (n = 11) and chronic granulomatous disease (n = 11) were identified. A small number of patients with Wiskott-Aldrich syndrome, natural killer cell deficiency, DiGeorge syndrome and chronic mucocutaneous candidiasis were also registered. Comparison of our data with that recently reported in the European registry revealed that complement deficiency was more prevalent in the Republic of Ireland compared to other European countries. Results of our registry point to a significant prevalence of primary immunodeficiency disorders in the Republic of Ireland (2.9 cases per 100,000 population). However, it is likely that these figures underestimate the true prevalence of such cases in the country. We hope, with increased awareness of the national registry among primary care physicians, that more patients will be included and we will be able to identify accurately the frequency and the distribution of these disorders.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Abuzakouk M,Feighery Cdoi
10.1007/s10875-005-0360-9subject
Has Abstractpub_date
2005-01-01 00:00:00pages
73-7issue
1eissn
0271-9142issn
1573-2592journal_volume
25pub_type
杂志文章abstract:INTRODUCTION:Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these cases. PURPOSE:Reporting the first family from the Arabian...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-013-9872-7
更新日期:2013-05-01 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::Lymphocytes expressing gammadelta T cell receptors (TCR) constitute an entire system of functionally specialized subsets that have been implicated in the regulation of immune responses, including responses to pathogens and allergens, and in tissue repair. The gammadelta TCRs share structural features with adaptive rec...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-007-9077-z
更新日期:2007-03-01 00:00:00
abstract::We report the long-term follow-up of 12 pediatric-aged patients with chronic granulomatous disease (CGD). The mean age at the onset of infections was 5 months with a median delay in diagnosis of 2.5 years. Bacille Calmette-Guérin lymphadenitis was the most common presenting infection (6) followed by suppurative lympha...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1021952315651
更新日期:2003-01-01 00:00:00
abstract:PURPOSE:Multiple sclerosis (MS) is an autoimmune disease of the central nervous system mediated by T cells. B7-H3 plays a diverse role in regulating T cell responses. However, its expression and clinical significance in MS are not well known. This study analyzed the expression of membrane B7-H3 (mB7-H3) and levels of s...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9800-2
更新日期:2013-01-01 00:00:00
abstract::The number of CD27++ plasma cells (PCs) in peripheral blood may be a valuable biomarker for systemic lupus erythematosus (SLE) disease management. More insights into the behavior of the PC population are, however, required to validate CD27 as a reliable biomarker. In the current study, we have monitored the PC compart...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-007-9099-6
更新日期:2007-09-01 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
abstract:PURPOSE:Patients affected by primary immunodeficiency usually undergo a wide range of infections, including reactivation of latent ones. Here we report two cases suffering from late-onset combined immunodeficiency in which ulcerative enteritis due to human Cytomegalovirus caused a life-threatening malabsorption syndrom...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-014-0060-1
更新日期:2014-08-01 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:BACKGROUND:The crucial role of T helper (Th) cells and chronic inflammation in atherosclerosis and coronary artery disease is no longer controversial. Evidence has revealed that Th cell type 1 (Th1) is closely associated with the pathogenesis of acute coronary syndrome (ACS). But the mechanisms involved in the generati...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-010-9367-8
更新日期:2010-03-01 00:00:00
abstract::Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-014-0126-0
更新日期:2015-02-01 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:INTRODUCTION:Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few pat...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-016-0364-4
更新日期:2017-02-01 00:00:00
abstract::Autism is a complex polygenic neurodevelopmental disorder characterized by deficits in communication and social interactions as well as specific stereotypical behaviors. Both genetic and environmental factors appear to contribute to the pathogenesis of autism. Accumulating data including changes in immune responses, l...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-010-9402-9
更新日期:2010-05-01 00:00:00
abstract::To investigate type II collagen (CII)-specific CD4+ T cell receptors involving in Collagen-induced arthritis (CIA) in DBA/1J mice as a model of rheumatoid arthritis in humans, TCR Vbeta usage in draining lymph nodes (dLNs) was assessed by flow cytometric analysis at 3, 5, and 8 weeks after bovine CII immunizations. In...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-006-9012-8
更新日期:2006-05-01 00:00:00
abstract::A number of primary immunodeficiency diseases represent a paradox of immunodeficiency and autoimmunity. In this minireview, we present basic concepts of apoptosis and disorder of apoptosis as one of the mechanisms to explain such a paradox between immunodeficiency and autoimmunity, which is exemplified by autoimmune l...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-007-9161-4
更新日期:2008-05-01 00:00:00
abstract::The concentrations of serum IgG and IgM antibodies to polyclonal IgA (IgAp), IgA1, and IgA2 were determined by enzyme immunoassay in 31 patients with IgA nephropathy and 30 healthy controls. Patients with IgA nephropathy had significantly raised concentrations of serum IgA compared to controls (Mann-Whitney U test, P ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918662
更新日期:1989-07-01 00:00:00
abstract::Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-018-0540-9
更新日期:2018-08-01 00:00:00
abstract::This study shows that specific humoral immunity could be transferred from marrow donors to marrow recipients. Peripheral blood lymphocytes from long-term human marrow recipients produced IgG anti-tetanus toxoid antibody after in vitro tetanus toxoid stimulation. Antitetanus toxoid antibody biosynthesis was induced usi...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915378
更新日期:1986-09-01 00:00:00
abstract::To better understand the role of Ia antigen expression, accessory cell function, and antigen ingestion in antigen presentation and the initiation of T cell proliferation, we studied these events in two acute monoblastic leukemia (AMoL) lines. The cell lines were positive for surface Ia antigen; one stimulated prolifer...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916572
更新日期:1984-11-01 00:00:00
abstract:PURPOSE:Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical cl...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-014-0121-5
更新日期:2015-02-01 00:00:00
abstract:INTRODUCTION:Experimental allergic encephalomyelitis (EAE) is a T cell-mediated autoimmune disease model for multiple sclerosis (MS). We have shown earlier that 15-deoxy-Delta(12,14)-prostaglandin J(2) (15d-PGJ(2)) and curcumin ameliorate EAE by modulating inflammatory signaling pathways in T lymphocytes. Toll-like rec...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-008-9202-7
更新日期:2008-09-01 00:00:00
abstract::The Latin American Group for Primary Immunodeficiencies, formed in 1993, presently includes 12 countries. One goal was to study the frequency of primary immunodeficiencies in various regions of the American continent and to enhance knowledge about these diseases among primary-care physicians, as well as allergist-immu...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1023255102170
更新日期:1998-03-01 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::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::Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1. We described two unrelated individuals who presented with FHL, in whom severely impaired NK cytotoxicity and decrease perforin expression was observed. DNA sequencing of PRF1 demonstrated that both were not only heterozygous for ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-015-0169-x
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:Treating recipient mice with palifermin (recombinant human keratinocyte growth factor) prevents the development of acute, lethal, graft-versus-host disease (GVHD). This is due, at least in part, to the ability of palifermin to protect epithelial cells from injury. Using the C57BL/6-->(C57BL/6 x DBA/2)F(1)-...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-008-9216-1
更新日期:2008-09-01 00:00:00
abstract::To investigate the associations of IkappaBalpha gene polymorphisms with the development and clinical manifestations of systemic lupus erythematosus (SLE), 110 patients with SLE and 120 unrelated healthy controls were enrolled in this study. The IkappaBalpha -881 A/G, -826 C/T, -550 A/T, -519 C/T, and -297 C/T polymorp...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-007-9156-1
更新日期:2008-05-01 00:00:00
abstract::Among a population of uniformly differentiated TH(2) cells, only a portion express IL-4 upon stimulation and those that do often express the product of only a single allele. We review the evidence for the basis of IL-4 monoallelism and argue that it depends upon probabilistic expression of the Il4 gene. Further, we ar...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-005-8218-5
更新日期:2005-11-01 00:00:00
abstract::Initially used as a replacement therapy for immunodeficiency diseases, intravenous immunoglobulin (IVIg) is now widely used for a number of autoimmune and inflammatory diseases. Considerable progress has been made in understanding the mechanisms by which IVIg exerts immunomodulatory effects in autoimmune and inflammat...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-007-9088-9
更新日期:2007-05-01 00:00:00