Abstract:
:Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leucocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane-bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. In this study, we evaluated the clinical, laboratory and genetic findings and the prognostic effects of molecular inheritance of our 24 CGD cases (14 XR, 10 autosomal recessive-AR). Consanguinity (three XR and all AR cases) showed statistically significant relationship with the type of hereditary inheritance (P < 0.001). 83% patients had an infection since early infancy. The mean age of initiation of symptoms was earlier in XR cases, and 78% patients had respiratory tract infections. Bone marrow transplantation was performed in five XR cases (two ex) and four AR (one ex) cases. Three of nine XR and two of six AR cases deceased on medical follow-up. In countries especially with high consanguinity rates, the early diagnosis for appropriate prophylactic treatment of CGD is quietly important to avoid from recurrent severe infections, early death and fatal complications of late transplantation.
journal_name
Scand J Immunoljournal_title
Scandinavian journal of immunologyauthors
Kutukculer N,Aykut A,Karaca NE,Durmaz A,Aksu G,Genel F,Pariltay E,Cogulu Ö,Azarsız Edoi
10.1111/sji.12737subject
Has Abstractpub_date
2019-02-01 00:00:00pages
e12737issue
2eissn
0300-9475issn
1365-3083journal_volume
89pub_type
杂志文章abstract::Autologous rosette-forming cells (ARFC) have been considered to be post-thymic precursor cells. Since thymocytes and peripheral T lymphocytes differ considerably in lactate dehydrogenase isoenzyme pattern and in activity of the enzymes of the purine metabolism, we investigated the enzyme profile in the ARFC. The L-lac...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1984.tb00920.x
更新日期:1984-03-01 00:00:00
abstract::The in vitro effects of pokeweed mitogen (PWM) on axial organ (AO) cells of the echinoderm starfish Asteria rubens have been studied. PWM stimulates 3H-thymidine incorporation by the whole population of AO cells (index of stimulation 4-5). On the basis of surface adherence to nylon wool the AO cell population can be f...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1981.tb00565.x
更新日期:1981-09-01 00:00:00
abstract::Cell surface molecules of rat normal lymphoid cells were selectively labelled by lactoperoxidase catalysed iodination or by a galactose oxidase tritiated sodium borohydride technique, subsequently detergent solubilized, isolated by indirect immunoprecipitation and analysed on SDS-polyacrylamide gel electrophoresis. Fo...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1978.tb00458.x
更新日期:1978-04-01 00:00:00
abstract::γδ T cells are characterized by recognizing conserved endogenous and stress-induced antigens without antigen presentation. It has been show that γδ T cells play an important role in anti-tumour/microbe responses, but their function in autoimmune diseases is yet not clear. Here, we reported the quantity and phenotype o...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2012.02705.x
更新日期:2012-07-01 00:00:00
abstract::The trophoblastic tissue and endothelium of fetal stem vessels in cryostat sections of first-trimester and term human placentae adsorbed erythrocytes sensitized with IgG antibodies of human, rabbit, and guinea pig origin. Native and heat-aggregated human and rabbit IgG, and human IgG subclasses except IgG2 inhibited t...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1977.tb00416.x
更新日期:1977-01-01 00:00:00
abstract::The immune system produces specific antibodies (Ab) against any antigens (Ag) of exogenous and endogenous origins with a diverse repertoire of V-region specificities. The primary V-region repertoire is created by the rearrangement of immunoglobulin (Ig) V-region, D- and J-segments with the insertion of N- and P-sequen...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-3083.2011.02557.x
更新日期:2011-06-01 00:00:00
abstract::Ficolin-2 (L-ficolin), derived from the FCN2 gene, is an innate immunity pattern recognition molecule found in human serum in which inter-individual variation in serum appears to be under genetic control. To validate and extend this finding, we developed a sandwich ELISA for detection of human Ficolin-2 in serum sampl...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2007.01915.x
更新日期:2007-04-01 00:00:00
abstract::Systemic lupus erythematosus is a systemic autoimmune disorder of unknown aetiology but is most likely caused by an interaction between several genetic factors and the environment. In a previously published genome scan we presented linkage to a marker on chromosome 4p13 in Icelandic families. Fine mapping of the regio...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2006.01810.x
更新日期:2006-09-01 00:00:00
abstract::Clonal selection in the thymus occurs mostly in the CD4+ CD8+ (double positive; DP) stage. Within DP thymocytes, cells in the CD3low subset are believed to be involved in clonal selection, and this subset is generally considered as a homogeneous population. T-cell antigen-receptor (TCR) signals on DP thymocytes are kn...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.1996.d01-263.x
更新日期:1996-06-01 00:00:00
abstract::The T-cell differentiation antigen T4/Leu3 has been described as a non-polymorphic molecule important in T-cell recognition of class II major histocompatibility complex antigens. We report the polymorphism of this molecule in black individuals as manifest by a heterogeneity of staining with OKT4 monoclonal antibody. N...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1984.tb01003.x
更新日期:1984-09-01 00:00:00
abstract::MCP-1/IL-6 in vitro monocyte secretion upon coculture with autologous fragment spheroids was studied in relation to patient 5- and 10-year overall survival rates in head and neck squamous cell carcinoma (HNSCC) patients (n = 65) diagnosed between 1998 and 2005, nine of whom had an human papilloma virus (HPV) tumour in...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/sji.12518
更新日期:2017-03-01 00:00:00
abstract::In vitro lymphocyte stimulation was performed on peripheral blood lymphocytes from 48 leprosy patients, 15 healthy contacts of leprosy patients, and 16 normal controls who lived in a leprosy-free area and who had not been exposed to leprosy. Tuberculin PPD and an antigen fraction. MLW 1, prepared from M. leprae, were ...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1982.tb00704.x
更新日期:1982-08-01 00:00:00
abstract::Calf spleen extractive injection (CSEI), extracted from the spleen of healthy cows (within 24 h of birth), is a small peptides enriched extraction while the ratio between peptide and ribose is 76 ± 15.2 mg/μg. CSEI is usually used as an ancillary agent to assist cancer patients with immune dysfunction. The present stu...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/sji.12442
更新日期:2016-07-01 00:00:00
abstract::Saliva was collected from 57 infants aged 6 weeks to 2.5 years and the molecular form of IgA was studied by centrifugation on sucrose density gradients. Two distinct populations were identified. Seventy-two per cent of the children had secretory IgA in their salivary secretions, while 28% had a molecular form correspo...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1989.tb01130.x
更新日期:1989-03-01 00:00:00
abstract::Phagocytosis of Staphylococcus aureus by human polymorphonuclear leucocytes (PMN) on the surface of endothelial cells is accompanied by adherence of the PMN to the endothelial surface and detachment of the endothelial cells from the culture monolayer. We studied the role of the leucocyte adherence-related glycoprotein...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1989.tb01192.x
更新日期:1989-07-01 00:00:00
abstract::The aim of this study was to investigate the effects and the underlying mechanisms of fentanyl anaesthetic on T lymphocytes isolated from human umbilical cord blood in vitro. The percentages of CD4+ , CD8+ and regulatory T (Treg) cells in human umbilical cord blood mononuclear cells (UBMC) treated with fentanyl in vit...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/sji.12538
更新日期:2017-05-01 00:00:00
abstract::In this study, we discuss the use of glycopeptides containing tumour-associated carbohydrate antigens (TACA) as preventive vaccines for carcinomas. The results of our recent studies suggest that CD8(+) cytotoxic T cells are capable of recognizing small TACA in a conventional class I MHC-restricted fashion. TACA-specif...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-3083.2005.01596.x
更新日期:2005-05-01 00:00:00
abstract::We have examined the frequencies of T gamma delta cells in blood, synovial fluids, and synovial membranes of patients with rheumatoid arthritis (RA) and in blood from age-matched controls. Immunocytochemical and immunohistochemical techniques were used with monoclonal antibodies BB3 and A13 to define a major and minor...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1990.tb03200.x
更新日期:1990-12-01 00:00:00
abstract::We have recently shown that a heat treatment of a murine target cell line, WEHI 164, induces resistance to lysis mediated by tumour necrosis factors alpha (TNF-alpha) and beta (TNF-beta). In the present study the effect of the heat shock of target cells on cytotoxicity mediated by natural killer cells (NK cells), lymp...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1990.tb02757.x
更新日期:1990-02-01 00:00:00
abstract::Hypoxia (low oxygen tension) is a common feature of inflamed and infected tissues. The influence of hypoxia on macrophage responses to micro-organisms has only recently been studied. This study demonstrates that hypoxia induced macrophages to control Leishmania amazonensis, an intracellular parasite that causes cutane...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2011.02566.x
更新日期:2011-08-01 00:00:00
abstract::The question of whether there is a preferential use of certain V genes in T cells entering an inflamed joint has hitherto been studied mainly using unfractionated cells from synovial fluid and tissue respectively, and no clear answer to the question has yet been provided. Concomitantly, evidence has been provided that...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1992.tb03128.x
更新日期:1992-11-01 00:00:00
abstract::CD8+ T cells are thought to play an important role in protective immunity against tuberculosis. We report the identification of three peptides derived from Rv1818c, Rv3812 and Rv3018c proteins of Mycobacterium tuberculosis that bound to HLA-A*0201 molecules and their ability to induce in vitro T-cell response in perip...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2008.02078.x
更新日期:2008-04-01 00:00:00
abstract::Antibodies forming a complex with antigen in vivo can dramatically change the antibody response to this antigen. In some situations, the response will be a 100-fold stronger than in animals immunized with antigen alone, and in other situations, the response will be completely suppressed. IgG is known to suppress the a...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/sji.12921
更新日期:2020-10-01 00:00:00
abstract::MicroRNAs play an important role in the modulation of the immune system. T helper 17 (Th17) cells are involved in the modulation of the tumour microenvironment. However, the function of miRNA in Th17 cells in the tumour microenvironment is unclear. In this study, we analysed miR-132 expression in Th17 cells and assess...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/sji.13007
更新日期:2020-12-02 00:00:00
abstract::The aim of this study was to evaluate possible changes in the circulating levels of interferon (IFN)-gamma, interleukin (IL)-4 and transforming growth factor (TGF)-beta in association with the autoimmune process leading to type 1 diabetes. Expression levels of mRNAs specific for each cytokine were determined in periph...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.2001.00904.x
更新日期:2001-05-01 00:00:00
abstract::Galectin-3 has been suggested as a pro-inflammatory mediator in animal arthritis and rheumatoid arthritis (RA). We aimed to study the serum level of galectin-3 in patients with newly diagnosed RA and associations with disease profile, Magnetic resonance imaging (MRI) findings and seromarkers of synovial matrix inflamm...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/sji.12619
更新日期:2017-12-01 00:00:00
abstract::Antibodies against IL-1 alpha were detected in sera of apparently healthy individuals. The immunoglobulins belonged to the IgG class, particularly IgG1, IgG2, and IgG4. [125I]rIL-1 alpha bound to Fab fragments of IgG, and IgG immune complexes of molecular weights from 160 to 700 kDa were formed in the sera by [125I]rI...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1990.tb03212.x
更新日期:1990-12-01 00:00:00
abstract::Antigen-binding peripheral blood leukocytes (PBL) from normal and bursectomized agammaglobulinemic chickens were labeled by incubation in vitro with radioiodinated antigen at 4 degrees C in the presence of sodium azide. [125I]TGAL-binding cells could be detected by autoradiography of PBL from normal, unimmunized chick...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1975.tb02612.x
更新日期:1975-01-01 00:00:00
abstract::The mammalian C-type serum lectin, mannan-binding protein (MBP), may induce C1q- and antibody-independent activation of the classical pathway of complement. Accordingly, MBP is considered as a member of the complement system. Complement deficiencies have been found with increased frequency in patients with meningococc...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1993.tb03320.x
更新日期:1993-04-01 00:00:00
abstract::Assessment of cytokine expression has become crucial to understand host responses to infections as well as autoimmunity. Several approaches including Northern blot, RNase protection assay and enzyme-linked immunosorbent assay have been used for this purpose, but they are time consuming, labour intense, and relatively ...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.2003.01250.x
更新日期:2003-05-01 00:00:00