Abstract:
PURPOSE:Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation. The genetic etiologies are diverse. Null mutations in DOCK8 and TYK2 are responsible for many cases. This study aims to provide a detailed clinical and immunological characterization of the disease and explore the underlying genetic defects among a large series of patients followed by a single center. The available data might improve our understanding of the disease pathogenesis and prognosis. METHODS:Clinical data of twenty-five patients diagnosed with AR-HIES were collected. Seventeen patients screened for STAT3, TYK2 and DOCK8 mutations. RESULTS:Sinopulmonary infections, dermatitis, hepatic disorders, cutaneous and systemic bacterial, fungal and viral infections were the most common clinical features. The rate of hepatic disorders and systemic infections were high. Twelve patients died with a median age of 10 years. CMV infection was the only statistically significant predicting factor for poor prognosis (early death). Three novel DOCK8 mutations and two large deletions were found in thirteen patients. No mutations found in STAT3 or TYK2 genes. CONCLUSION:Autosomal recessive hyper-IgE syndrome is a combined immunodeficiency disease characterized by high morbidity and mortality rate. The different genetic background and environmental factors may explain the more severe phenotypes seen in our series. DOCK8 defect is the most common identified genetic cause. Patients with no identified genetic etiology are likely to carry mutations in the regulatory elements of genes tested or in novel genes that are yet to be discovered.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Alsum Z,Hawwari A,Alsmadi O,Al-Hissi S,Borrero E,Abu-Staiteh A,Khalak HG,Wakil S,Eldali AM,Arnaout R,Al-Ghonaium A,Al-Muhsen S,Al-Dhekri H,Al-Saud B,Al-Mousa Hdoi
10.1007/s10875-012-9769-xsubject
Has Abstractpub_date
2013-01-01 00:00:00pages
55-67issue
1eissn
0271-9142issn
1573-2592journal_volume
33pub_type
杂志文章abstract:INTRODUCTION:Rheumatic fever (RF) is an autoimmune disease caused by the gram-positive bacteria Streptococcus pyogenes that follows a nontreated throat infection in susceptible children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Carditis, the most seriou...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-009-9332-6
更新日期:2010-01-01 00:00:00
abstract::The effects of the addition of indomethacin and interleukin-2 (IL-2) to phytohemagglutinin (PHA)-stimulated lymphocytes from patients with untreated squamous-cell carcinoma of the lung and with chronic obstructive pulmonary disease and from normal individuals were studied. In 13 of 21 patients with lung carcinoma, the...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915506
更新日期:1985-05-01 00:00:00
abstract::Apart from cellular immunity and immunopathology, various cytokines have been implicated in malaria-associated immunosuppression. In this study, serum levels of transforming growth factor-beta (TGF-beta) were determined with an enzyme-linked immunosorbent assay in 37 patients with acute Plasmodium falciparum malaria p...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF01541734
更新日期:1995-03-01 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::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 evaluates metaphase chromosome protein 1 (MCP1), a nuclear antigen, as a diagnostic marker for systemic lupus erythematosus (SLE). Reactivity of sera from 114 Portuguese patients with autoimmune rheumatic disease or from healthy blood donors (HBD), against MCP1, produced in bacteria (bact-MCP1) or in its na...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9665-4
更新日期:2012-08-01 00:00:00
abstract::Increased levels of serum IgD can be found in single patients with a variety of clinical syndromes and in the disease entity designated hyper-IgD syndrome which is associated with periodic fever and lymphadenopathy. We investigated 17 patients, both children and adults, with high serum IgD levels ranging from 220 to 5...
journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/BF00917104
更新日期:1989-09-01 00:00:00
abstract::The autoantigen of celiac disease, transglutaminase 2 (TG2), adopts an open conformation during enzymatic activation. We studied diagnostic accuracy of serodiagnostic assays using TG2 in its open and closed conformation as antigens in patients with diagnostic difficulties. The open TG2 antibody (TG2ab) test identified...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9514-x
更新日期:2011-06-01 00:00:00
abstract::Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-014-0098-0
更新日期:2014-11-01 00:00:00
abstract::Intravenous immunoglobulin (IVIg) has been used to treat autoimmune diseases and lymphoid malignancies with some therapeutic effect. In both these pathological conditions, there is an overproduction of BAFF (for "B-cell-activating factor of the TNF family"), and APRIL (for "a proliferation-inducing ligand"). The prese...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-007-9082-2
更新日期:2007-05-01 00:00:00
abstract::Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with i...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00932-1
更新日期:2020-12-07 00:00:00
abstract::The origin of natural antibodies has long been a subject of controversy. Polyreactive natural antibodies recognize multiple ligands and are thought to arise from B1 B cells. Natural antibodies against carbohydrate antigens such as Gal alpha 1-3Gal or against blood groups A and B are thought to be "elicited" by gut bac...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1027378716015
更新日期:1997-07-01 00:00:00
abstract::The basis of the immunological unresponsiveness seen in leprosy patients is unknown. Untreated lepromatous leprosy patients display an unspecific cellular anergy which disappears with treatment, leaving an anergy specific for Mycobacterium leprae. These patients suffer from a complication, erythema nodosum leprosum, c...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916889
更新日期:1982-04-01 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::Leishmaniasis is caused by parasitic protozoa transmitted by the bite of a female sand fly and is currently endemic in 88 countries. BALB/c mice are highly susceptible to the infection with the parasite Leishmania major, and this susceptibility has been attributed, in part, to the expansion of Th2 cells, production of...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-010-9502-6
更新日期:2011-06-01 00:00:00
abstract::IgD production by short-term human peripheral blood mononuclear cell (PBM) cultures was studied to establish the in vitro correlates of low serum IgD expression. Cells of persons with less than 3 micrograms/ml IgD in the serum, referred to as the low-serum IgD phenotype (LISP), were analyzed. Advantage was taken of re...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916005
更新日期:1987-03-01 00:00:00
abstract::It has been postulated that patients with ulcerative colitis (UC) have altered reactivity of gut-associated lymphoid tissue. In such cases there is intense infiltration of the mucosa with immune competent cells and associated tissue damage. We have shown previously that the dietary supplementation with the n-3 polyuns...
journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1006698728816
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:Survival of the Leishmania parasite within monocytes hinges on its ability to effectively nullify their microbicidal effector mechanisms. Accordingly, this study aimed to delineate this biological niche in patients with visceral leishmaniasis (VL). METHODS:In monocytes, the redox status, antigen presenting cap...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-014-0115-3
更新日期:2015-01-01 00:00:00
abstract::Emotional stress is often followed by increased susceptibility to infections. One major role in the immediate immune response to infection is played by natural killer (NK) cells. This study was designed to establish whether acute psychological stress influences cellular immune functions and to elucidate the role of en...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00919268
更新日期:1993-03-01 00:00:00
abstract::Palifermin (recombinant human keratinocyte growth factor) prevents the development of acute, lethal graft-versus-host disease (GVHD). It does so, at least in part, by protecting cells from injury. Another property of Palifermin is immune regulation. How the latter influences the evolution of GVHD remains uncertain. We...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-006-9039-x
更新日期:2006-09-01 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::Severe congenital neutropenia (SCN), originally described by the Swedish pediatrician Rolf Kostmann, constitutes a heterogeneous disorder associated with a dramatic decrease of peripheral neutrophil granulocytes. Patients suffer from life-threatening bacterial infections unless treated by recombinant human granulocyte...
journal_title:Journal of clinical immunology
pub_type: 历史文章,杂志文章,评审
doi:10.1007/s10875-016-0358-2
更新日期:2017-02-01 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::Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphop...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9609-4
更新日期:2012-02-01 00:00:00
abstract:PURPOSE:Colitis is a common and serious complication of chronic granulomatous disorder (CGD) and requires assessment. Colonoscopy is invasive and carries risks of serious complication. We therefore assessed non-invasive monitoring via magnetic resonance imaging (MRI). We also evaluated fecal calprotectin (FCP), the Har...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-00651-2
更新日期:2019-07-01 00:00:00
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::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:PURPOSE:Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been described. We present this case to illustrate that patients with cDG...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-015-0171-3
更新日期:2015-07-01 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::The concentrations of seven immunoglobulin isotypes (IgA, IgE, IgM, IgG1, IgG2, IgG3, and IgG4) were measured in the sera of 207 Finnish blood donors, and they were allotyped with anti-Gm antibodies: anti-f, anti-a, anti-x, and anti-n. The above population could be divided into 12 phenotypes, and significant differenc...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918793
更新日期:1991-01-01 00:00:00