Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease.

Abstract:

:Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX. Female carriers of X-linked CGD have previously been considered to be unaffected. It is increasingly recognized that they may suffer from similar problems to CGD patients. This review will examine the literature about clinical manifestations of disease in X-linked carriers of CGD.

journal_name

J Clin Immunol

authors

Battersby AC,Cale AM,Goldblatt D,Gennery AR

doi

10.1007/s10875-013-9939-5

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

1276-84

issue

8

eissn

0271-9142

issn

1573-2592

journal_volume

33

pub_type

杂志文章,评审
  • Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

    abstract:PURPOSE:Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-018-0508-9

    authors: Colombo EA,Elcioglu NH,Graziano C,Farinelli P,Di Fede E,Neri I,Facchini E,Greco M,Gervasini C,Larizza L

    更新日期:2018-05-01 00:00:00

  • Augmentation of natural and antibody-dependent cell-mediated cytotoxicity by pure human leukocyte interferon.

    abstract::Augmentation of the cytolytic activity of human natural killer cells and of antibody-dependent cell-mediated cytotoxicity has been attributed to human interferons. With the purification to homogeneity of human leukocyte interferon, it became possible to test directly whether pure interferon could increase the activity...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/BF00922756

    authors: Herberman RB,Ortaldo JR,Rubinstein M,Pestka S

    更新日期:1981-07-01 00:00:00

  • Patterns of antibody reactivity to selected human immunodeficiency virus type 1 (HIV-1) gp160 epitopes infected individuals grouped according to CD4+ cell levels.

    abstract::We examined sera from 160 HIV-infected individuals for antibodies reactive to HIV-1 gp160 epitopes defined by seven synthetic peptides. Seropositive individuals were placed into three groups based upon levels of circulating CD4+ cells. These groups consisted of individuals with (1) more than 400 CD4+ cells, (2) 200-40...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/BF00918790

    authors: Warren RQ,Wolf H,Zajac RA,Boswell RN,Kanda P,Kennedy RC

    更新日期:1991-01-01 00:00:00

  • The Elements Steering Pathogenesis in IgG-Mediated Alloimmune Diseases.

    abstract::Alloimmune diseases can occur in pregnancy and after blood transfusions, where antibodies are formed, targeting foreign cells and tissues for destruction by myeloid cells through IgG Fc-receptors (FcγR). In pregnancy, antibodies against human blood group or platelet antigens (e.g. HPA1-a) cause life-threatening anemia...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1007/s10875-016-0253-x

    authors: Sonneveld ME,van der Schoot CE,Vidarsson G

    更新日期:2016-05-01 00:00:00

  • Regulation of ERK2 dephosphorylation in G1-stimulated rat T lymphoblasts.

    abstract::Rat T lymphoblasts arrested in the G1 phase of the cell cycle by interleukin-2 (IL-2) deprivation can be forced to proceed to the S phase when they are stimulated with IL-2 or the phorbol ester phorbol 12,13-dibutyrate (PDBu). When PDBu is used as a stimulus, extracellular regulated kinase 2 (ERK2) is activated by thr...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1023/a:1027375828134

    authors: Lisbona C,Alemany S,Fernández-Renart M

    更新日期:1997-11-01 00:00:00

  • Long-term follow-up of health in blood donors with primary selective IgA deficiency.

    abstract::A 20-year health follow-up study of 159 initially healthy blood donors with a severe deficiency of serum IgA ( < 0.05 x 10(-3) g/L) and of 45 donors with decreased serum IgA (0.05 x 10(-3)-0.8 g/L) was carried out. The findings indicate that persons with a severe deficiency of and decreased serum IgA who are healthy a...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/BF01540915

    authors: Koskinen S

    更新日期:1996-05-01 00:00:00

  • i.v.IG for autoimmune, fibrosis, and malignant conditions: our experience with 200 patients.

    abstract::Intravenous immunoglobin (i.v.IG) is generated from the plasma of more than 10,000 healthy subjects. Originally i.v.IG was employed to supplement the missing Igs in subjects with immune-deficiencies. Later on it was given successfully to patients with autoimmune conditions, in some of which the benefits were confirmed...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1023/b:joci.0000019809.55787.ec

    authors: Shoenfeld Y,Krause I

    更新日期:2004-03-01 00:00:00

  • The Use of Salmonella Typhim Vaccine to Diagnose Antibody Deficiency.

    abstract:PURPOSE:The specific antibody response to the unconjugated 23-valent pneumococcal polysaccharide vaccine is one of the most common tests used to assess for possible humoral immunodeficiency. The results can be difficult to interpret because most people have been immunized with one or more of the pneumococcal vaccines a...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-017-0406-6

    authors: Bausch-Jurken MT,Verbsky JW,Gonzaga KA,Elms NP,Hintermeyer MK,Gauld SB,Routes JM

    更新日期:2017-07-01 00:00:00

  • T-cell activation and differentiation are regulated by TNF during murine DBA/2-->B6D2F1 intestinal graft-versus-host disease.

    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

    authors: Brown GR,Thiele DL

    更新日期:2000-09-01 00:00:00

  • A novel approach for cancer immunotherapy: tumor cells with anchored superantigen SEA generate effective antitumor immunity.

    abstract::Murine B16 melanoma cell line is poorly immunogenic and highly aggressive. We recently reported that the transmembrane staphylococcal enterotoxin A (TM-SEA) anchors onto B16 cells and stimulates lymphocyte proliferation. The purpose of the study was to investigate whether vaccination with B16 cells bearing membrane-an...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1023/B:JOCI.0000025451.41948.94

    authors: Ma W,Yu H,Wang Q,Jin H,Solheim J,Labhasetwar V

    更新日期:2004-05-01 00:00:00

  • Efficacy and safety of subcutaneous vivaglobin® replacement therapy in previously untreated patients with primary immunodeficiency: a prospective, multicenter study.

    abstract::Treatment of primary immunodeficiency (PI) is typically initiated with intravenous immunoglobulin (IVIG) loading and then continued with IVIG or subcutaneous IgG (SCIG). This prospective, open-label, multicenter, 6-month study evaluated a new regimen of initiating IgG therapy with SCIG in 18 previously untreated patie...

    journal_title:Journal of clinical immunology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1007/s10875-011-9588-5

    authors: Borte M,Quinti I,Soresina A,Fernández-Cruz E,Ritchie B,Schmidt DS,McCusker C

    更新日期:2011-12-01 00:00:00

  • Matrix metalloproteinase-9 and autoimmune diseases.

    abstract::Matrix metalloproteinases (also named matrixin or MMPs) are a major group of enzymes that regulate cell-matrix composition by using zinc for their proteolytic activities. They are essential for various normal biological processes such as embryonic development, morphogenesis, reproduction tissue resorption, and remodel...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1007/s10875-006-9022-6

    authors: Ram M,Sherer Y,Shoenfeld Y

    更新日期:2006-07-01 00:00:00

  • The transfer of antigen-specific humoral immunity from marrow donors to marrow recipients.

    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

    authors: Lum LG,Seigneuret MC,Storb R

    更新日期:1986-09-01 00:00:00

  • Safety and efficacy of Privigen, a novel 10% liquid immunoglobulin preparation for intravenous use, in patients with primary immunodeficiencies.

    abstract:PURPOSE:The present study was designed to evaluate the efficacy and safety of a novel, 10% liquid formulation of intravenous immunoglobulin, stabilized with 250 mmol/L L-proline (Privigen), in patients with primary immunodeficiency disease. MATERIALS AND METHODS:Eighty adults and children diagnosed with common variabl...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10875-008-9231-2

    authors: Stein MR,Nelson RP,Church JA,Wasserman RL,Borte M,Vermylen C,Bichler J,IgPro10 in PID study group.

    更新日期:2009-01-01 00:00:00

  • ANCA-GBM dot-blot: evaluation of an assay in the differential diagnosis of patients presenting with rapidly progressive glomerulonephritis.

    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

    authors: Rutgers A,Damoiseaux J,Roozendaal C,Limburg PC,Stegeman CA,Tervaert JW

    更新日期:2004-07-01 00:00:00

  • Glucocorticoid regulates interleukin-37 in systemic lupus erythematosus.

    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

    authors: Song L,Qiu F,Fan Y,Ding F,Liu H,Shu Q,Liu W,Li X

    更新日期:2013-01-01 00:00:00

  • Immune function in chronic active Epstein-Barr virus infection.

    abstract::The spectrum of illness attributed to Epstein-Barr virus (EBV) includes patients with symptoms persisting for more than 1 year without any other obvious underlying disease. High titers of antibodies to EBV, either IgG antiviral capsid antigen or anti-early antigen, can be demonstrated. In this study, 13 patients diagn...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/BF00915168

    authors: Kibler R,Lucas DO,Hicks MJ,Poulos BT,Jones JF

    更新日期:1985-01-01 00:00:00

  • Allotype-associated differences in concentrations of human IgG subclasses.

    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

    authors: Sarvas H,Rautonen N,Mäkelä O

    更新日期:1991-01-01 00:00:00

  • Aging affects human B cell responses.

    abstract::Aging represents a complex remodeling in which both innate and adaptive immunities deteriorate. Age-related changes in humoral immunity are responsible for the reduced vaccine responses observed in elderly individuals. Although T cell alterations play a significant role in age-related humoral immune changes, alteratio...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1007/s10875-010-9501-7

    authors: Frasca D,Blomberg BB

    更新日期:2011-06-01 00:00:00

  • Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.

    abstract:PURPOSE:Tumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behçet's disease. Here, we report a novel mutation in...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-019-00604-9

    authors: Dong X,Liu L,Wang Y,Yang X,Wang W,Lin L,Sun B,Hou J,Ying W,Hui X,Zhou Q,Liu D,Yao H,Sun J,Wang X

    更新日期:2019-02-01 00:00:00

  • Immunomodulatory drug CC-4047 is a cell-type and stimulus-selective transcriptional inhibitor of cyclooxygenase 2.

    abstract::COX2 (prostaglandin G/H synthase, PTGS2) is a well-validated target in the fields of both oncology and inflammation. Despite their significant toxicity profile, non-steroidal anti-inflammatory drugs (NSAIDs) have become standard of care in the treatment of many COX2-mediated inflammatory conditions. In this report, we...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-007-9070-6

    authors: Ferguson GD,Jensen-Pergakes K,Wilkey C,Jhaveri U,Richard N,Verhelle D,De Parseval LM,Corral LG,Xie W,Morris CL,Brady H,Chan K

    更新日期:2007-03-01 00:00:00

  • Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

    abstract:PURPOSE:Although many studies have investigated Mendelian susceptibility to mycobacterial disease (MSMD) worldwide, there is no report of the long-term clinical management and prognosis for MSMD in China. METHODS:This is a cohort study from January 2000 to June 2018. Three hundred and twenty-four patients with bacillu...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-019-00672-x

    authors: Ying W,Liu D,Dong X,Wang W,Hui X,Hou J,Yao H,Zhou Q,Sun B,Sun J,Wang X

    更新日期:2019-08-01 00:00:00

  • Adaptive and Innate Immune Responses in Autism: Rationale for Therapeutic Use of Intravenous Immunoglobulin.

    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

    authors: Gupta S,Samra D,Agrawal S

    更新日期:2010-05-01 00:00:00

  • The influence of recombinant human erythropoietin on apoptosis and cytokine production of CD4+ lymphocytes from hemodialyzed patients.

    abstract::Recombinant human erythropoietin (rhEPO) treatment of hemodialyzed (HD) patients normalizes the altered phenotype of CD4(+) lymphocytes and restores the balance of Th1/Th2 cytokines. We decided to test how the presence of rhEPO in cell culture modulates cytokine production of CD4(+) lymphocytes in HD patients with sta...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-012-9835-4

    authors: Lisowska KA,Dębska-Ślizień A,Jasiulewicz A,Daca A,Bryl E,Witkowski JM

    更新日期:2013-04-01 00:00:00

  • Effect of IL-2 therapy on CD8+ cell noncytotoxic anti-HIV response during primary HIV-1 infection.

    abstract::Early treatment intervention during human immunodeficiency virus (HIV) infection is a strategy aimed to preserve and/or enhance the developing anti-HIV immune responses. We report the effect of highly active antiretroviral therapy (HAART) combined with intermittent subcutaneous doses of Interleukin 2 (IL-2) on CD8(+) ...

    journal_title:Journal of clinical immunology

    pub_type: 临床试验,杂志文章

    doi:10.1023/B:JOCI.0000019778.96564.26

    authors: Martinez-Mariño B,Ashlock BM,Shiboski S,Hecht FM,Levy JA

    更新日期:2004-03-01 00:00:00

  • Immunological functions and phenotypes of peripheral blood lymphocytes from human T-cell leukemia virus-I carriers.

    abstract::We studied immunological functions of peripheral blood lymphocytes (PBL) from human T-cell leukemia virus type I (HTLV-I)-seropositive healthy carriers in vitro. Proliferative responses of PBL to T-cell and B-cell mitogens such as concanavalin A (Con A), pokeweed mitogen (PWM), and Staphylococcus aureus Cowan I (SAC) ...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/BF00918017

    authors: Tanaka Y,Oda S,Nagata K,Mori N,Sakamoto H,Eto S,Yamashita U

    更新日期:1989-11-01 00:00:00

  • Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

    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

    authors: Kulkarni M,Hule G,de Boer M,van Leeuwen K,Kambli P,Aluri J,Gupta M,Dalvi A,Mhatre S,Taur P,Desai M,Madkaikar M

    更新日期:2018-11-01 00:00:00

  • Human fetal liver cells induce colonies in spleen of lethally irradiated mice.

    abstract::Murine hematopoietic tissues contain cells which, upon injection into lethally irradiated mice, produce nodules on the surface of their spleen (colony-forming unit--spleen; CFU-S). The exact hierarchical level of the hematopoietic progenitors which give rise to CFU-S is not fully established; however, cell populations...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1023/a:1027302310505

    authors: Rezzoug F,Tocci A,Safsafi K,Vivier G,Touraine JL

    更新日期:1997-05-01 00:00:00

  • gammadelta T lymphocytes-selectable cells within the innate system?

    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

    authors: Born WK,Jin N,Aydintug MK,Wands JM,French JD,Roark CL,O'Brien RL

    更新日期:2007-03-01 00:00:00

  • DNA methylation and the expression of IL-4 and IFN-gamma promoter genes in patients with bronchial asthma.

    abstract::Although CpG methylation is thought to be a negative regulator of gene transcription, its relationship with cytokine expression remains unclear. Interleukin (IL)-4 and interferon (IFN)-gamma are major cytokines that affect the differentiation of naïve CD4+ T lymphocytes into the Th1 and Th2 lineage. We used bisulfite ...

    journal_title:Journal of clinical immunology

    pub_type: 杂志文章

    doi:10.1007/s10875-007-9148-1

    authors: Kwon NH,Kim JS,Lee JY,Oh MJ,Choi DC

    更新日期:2008-03-01 00:00:00