Abstract:
PURPOSE:Chronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of children with CGD in China. Therefore, in this study, we described the clinical and molecular features of 38 suspected CGD patients from 36 unrelated Chinese families. METHODS:Clinical diagnosis was performed using dihydrorhodamine assays detected by flow cytometry. Molecular analysis was used to identify underlying CGD-causative genes. RESULTS:The mean age of onset in our 38 patients was 3.4 months, while the mean age at diagnosis was 31.7 months. Apart from recurrent pneumonia and abscesses, tuberculosis (TB) and Bacille Calmette-Guerin (BCG) infections were notable features in our cohort. Overall, 17 cases died and patient 1 did not participate in the follow-up period . In total, we identified 29 different CYBB gene mutations in 31 patients. We found NCF1 and CYBA mutations in 3 and 2 patients, respectively. In addition, we identified 31 carriers and prenatally diagnosed 4 CGD and 4 healthy fetuses. CONCLUSIONS:The results of our study demonstrate that children with BCG infections or recurrent TB infections should have immune function screening tests performed. Moreover, newborns with family histories of primary immunodeficiency diseases should avoid of BCG vaccination. Molecular analysis is an important tool for identifying patients, carriers, and high-risk CGD fetuses.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Xu H,Tian W,Li SJ,Zhang LY,Liu W,Zhao Y,Zhang ZY,Tang XM,Wang M,Wu DQ,Shi JS,Ding Y,Zhao XD,Yang XQ,Jiang LPdoi
10.1007/s10875-014-0061-0subject
Has Abstractpub_date
2014-08-01 00:00:00pages
633-41issue
6eissn
0271-9142issn
1573-2592journal_volume
34pub_type
杂志文章abstract::Thirty two HIV-infected children, on highly active antiretroviral therapy (HAART) and > 500 CD4+ T cells/mm3, were rated according to the time-course of viral load (VL) during the whole follow-up period (> 18 months) in a longitudinal retrospective study. (a) uVL group: 15 children with VL below 400 copies/mL; (b) dVL...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1024536816684
更新日期:2003-07-01 00:00:00
abstract::The role of tumor necrosis factor-alpha in the shedding of soluble tumor necrosis factor receptors in endotoxemia was investigated. The appearance of the soluble tumor necrosis factor receptors was assessed in four healthy volunteers following an intravenous injection of tumor necrosis factor-alpha and in eight chimpa...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF01489489
更新日期:1995-01-01 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:BACKGROUND:Although some previous studies have reported that genetic and immunological factors play important roles in the pathogenesis of Kawasaki disease (KD), the etiological factors of this enigmatical pediatric disease are still poorly understood. PURPOSE:This study aims to investigate whether polymorphisms of th...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-008-9203-6
更新日期:2008-09-01 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:BACKGROUND:Nonalcoholic steatohepatitis (NASH) is a chronic inflammatory liver disease influenced by risk factors for the metabolic syndrome. In adult patients, NASH is associated with an altered phenotype and functionality of peripheral immune cells, the recruitment of leukocytes and intrahepatic activation, and an ex...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9635-2
更新日期:2012-06-01 00:00:00
abstract:PURPOSE:Adenitis for which no causative organism can be isolated is a common occurrence in patients with chronic granulomatous disease (CGD). Here we identify Acidomonas methanolica as a pathogen associated with adenitis in a patient with CGD. METHODS:The causative pathogen was obtained after prolonged incubation of a...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9728-6
更新日期:2012-12-01 00:00:00
abstract::This review describes a series of studies performed in our laboratory which have focused on the activation and subsequent proliferation and differentiation of human B lymphocytes. Utilizing polyclonal signals which activate B cells by interacting with their surface membrane Ig, we have examined the events in the trans...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00917136
更新日期:1984-09-01 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:PURPOSE:DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and the generation of the T cell receptor and immunoglobulin molecules. Defects in LIG4 result in a variable syndrome of growth retardation, pancytopenia, combined i...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-016-0266-5
更新日期:2016-05-01 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:OBJECTIVE:The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS:A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis o...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-017-0398-2
更新日期:2017-05-01 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::Chronic enteroviral meningoencephalitis is a well-recognized complication in patients with X-linked agammaglobulinemia (XLA). The majority of published cases refers to its occurrence in patients on no replacement therapy or on only intramuscular immunoglobulin. The advent of intravenous immunoglobulin (IVIg) in the ea...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/BF00918150
更新日期:1992-07-01 00:00:00
abstract:PURPOSE:To evaluate mortality risk factors in pediatric-onset common variable immunodeficiency disorders (CVID), we evaluated the largest single-institution cohort of pediatric-onset CVID patients. Previous publications on CVID have provided valuable descriptive data, but lack risk stratification to guide physicians in...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-00674-9
更新日期:2019-10-01 00:00:00
abstract::On analysis of in vitro assays of human natural killer (NK) cell function the inadequacy of commonly used methods of expressing lytic activity was apparent. A comparison was made of the data obtained using modifications of two equations-the simple exponential fit and the von Krogh equations. Both of these equations we...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915477
更新日期:1981-01-01 00:00:00
abstract::Five common variable immunodeficiency (CVI) patients were analyzed for expression of immunoglobulin (Ig) genes. In the pokeweed mitogen (PWM)-induced Ig-production assay, the combination of T and B cells showed that all patients' T cells had normal helper functions and all patients' B cells had profound defects. The d...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918184
更新日期:1991-09-01 00:00:00
abstract::Persistent, generalized lymphadenopathy (PGL) is a recognized component of human immunodeficiency virus (HIV) infection. We conducted longitudinal studies of B and T cell function in seven homosexual men with HIV infection and PGL. All seven had abnormal antibody-mediated immunity as studied by sequential assessment o...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915157
更新日期:1988-01-01 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::T-cell proliferative responses to the mitogenic monoclonal antibody anti-Leu 4 were assessed in healthy controls, lymphadenopathy syndrome (LAS) patients, and acquired immune deficiency syndrome (AIDS) patients. While 19% of the control group showed low anti-Leu 4 responses (less than 12,000 cpm), 60% of the LAS patie...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915164
更新日期:1985-01-01 00:00:00
abstract::Atopic dermatitis in humans and dogs is a chronic relapsing allergic skin disease. Dogs show a spontaneous disease similar to the human counterpart and represent a model to improve our understanding of the immunological mechanisms, the pathogenesis of the disease, and new therapy development. The aim of the study was ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-010-9447-9
更新日期:2010-11-01 00:00:00
abstract::We report the occurrence of cryoglobulinemia and cutaneous vasculitis in three patients with brucellosis caused by Brucella melitensis. The isolated cryoglobulins were characterized as mixed polyclonal or type III. Brucella agglutinin activity was not detected in any of the cryoglobulins analyzed. However, the same ag...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915057
更新日期:1987-11-01 00:00:00
abstract:BACKGROUND:An outbreak of multisystem inflammatory syndrome in children, including Kawasaki disease (KD), emerged during COVID-19 pandemic. We explored whether Kawasaki-like disease (KD), when associated with confirmed SARS-CoV-2 infection, has specific characteristics. METHODS:We included children and adolescents wit...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00941-0
更新日期:2021-01-04 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::Tuberculous osteomyelitis is characterized by uncontrolled inflammation leading to bone destruction. Chemokines recruit inflammatory cells but there are no data on the mechanisms limiting cell influx. We investigated the potential down-regulators of chemokine secretion IL-4, IL-10, IL-13, dexamethasone, and PGE2, IL-1...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1023357812041
更新日期:2003-05-01 00:00:00
abstract::The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with cardiac malformations, immunodeficiency, hypoparathyroidism, autoimmunity, palate anomalies, an...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00766-x
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVES:The study clarified whether the T-helper (Th)1/Th2 imbalance existed only in coronary arterial inflammation or in both coronary arterial inflammation and myocardial inflammation and explored the significance of the imbalance of Th1/Th2 function after acute myocardial infarction (AMI). BACKGROUND:There are t...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-005-4088-0
更新日期:2005-05-01 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:BACKGROUND:Purified allergens with reduced IgE reactivity are required to improve the safety and efficacy of allergen-specific immunotherapy (IT). OBJECTIVE:The present study investigates the efficacy of purified cockroach allergen immunotherapy with proteolytically active and inactive Per a 10 in allergic mouse model...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9362-0
更新日期:2010-05-01 00:00:00
abstract::Activated PI3K δ syndrome (APDS) is a primary immunodeficiency caused by heterogeneous germline gain-of-function mutations which ultimately lead to the hyperactivation of the phosphoinositide-3-kinase δ (PI3K δ). PI3K δ exists as a heterodimer composed of a catalytic and a regulatory subunit. APDS type 2 is caused by ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00843-1
更新日期:2020-10-01 00:00:00