Abstract：
:We report a case of a combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD) characterized by an altered response to ultraviolet (UV) light due to a defect in the XPD gene. The XPD gene encodes a subunit of the transcription factor II H (TFIIH), a complex involved in nucleotide-excision repair (NER) and basal transcription. Our patient showed neurological and immune system abnormalities, including CD4 + lymphopenia never previously reported in TTD patients. In vitro immunological studies revealed a marked reduction in T-cell proliferation in response to mitogens and CD3 cross-linking which was partially recovered by the addition of anti-CD28 antibody or exogenous interleukin-2. The patient's T cells displayed alterations in T-cell receptor (TCR/CD3) proximal signalling characterized by marked reduction in Lck kinase activity coupled with a constitutive hyperactivation of Fyn kinase. Despite these alterations, normal levels of Lck and Fyn proteins were detected. The role of antigen-presenting cells (APCs) in the pathogenesis of the T-cell defect was investigated by analysing dendritic cells (DCs) generated from the patient's blood monocytes. In these cells, flow cytometry revealed significantly reduced expression of the CD86 co-stimulatory molecules and HLA glycoproteins. In addition, the patient's DCs showed a decreased ability to stimulate naive T lymphocytes. Overall, the results of our study suggest that a defective TFIIH complex might result in alterations in T cells and DC functions leading to a severe immunodeficiency.
journal_name
Clin Exp Immunoljournal_title
Clinical and experimental immunologyauthors
Racioppi L,Cancrini C,Romiti ML,Angelini F,Di Cesare S,Bertini E,Livadiotti S,Gambarara MG,Matarese G,Lago Paz F,Stefanini M,Rossi Pdoi
10.1046/j.1365-2249.2001.01625.xsubject
Has Abstractpub_date
2001-12-01 00:00:00pages
511-8issue
3eissn
0009-9104issn
1365-2249pii
1625journal_volume
126pub_type
杂志文章abstract：:The NOD mouse is a model of human juvenile type I diabetes mellitus. As in humans and in the BB rat model, the development of diabetes in NOD mice is accompanied by evident manifestations of cell-mediated and humoral autoimmunity. Beside autoantibodies directed at putative islet cell antigens, NOD sera contain antibod...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.1990.tb05347.x
更新日期：1990-09-01 00:00:00
abstract：:IgM-rheumatoid factor (RF) interference in the determination of total serum IgE and IgE-containing circulating immune complexes (IgE-CIC) was studied by inhibition experiments in vitro comparing a new ELISA technique free of IgM-RF interference with more widely used RIA methods. It was shown that a considerable overes...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1988-04-01 00:00:00
abstract：:A hybridoma (FMC4) has been derived which secretes antibody showing selective reaction with human B lymphocytes, monocytes and some null lymphocytes. Few, if any, T lymphocytes in normal blood are stained, although stimulation of lymphocytes with PHA leads to an increase in the proportion of cells reacting with the hy...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1980-06-01 00:00:00
abstract：:Mycobacterial and homologous human heat shock protein T cell peptide epitopes specific for T lymphocytes in Behçet's disease were investigated for their pathogenicity in Lewis rats. The potential pathogenicity of eight peptides and two controls was assessed by administering the peptides in enriched Freund's adjuvant i...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.1994.tb06072.x
更新日期：1994-08-01 00:00:00
abstract：:Serum from grass-sensitive patients who had received hyposensitization therapy was found able to depress the in vitro response to Holcus lanatus grass pollen extract of lymphocytes from untreated grass-sensitive individuals. The inhibitory activity could no longer be demonstrated at serum dilutions equal to or greater...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
abstract：:Purified proteins (Pa-1 and Pa-2) from pokeweed have been compared with commercial pokeweed mitogen (PWM-G) and other mitogens in their ability to stimulate human lymphocytes. With cultures of T and B cells separated from tonsil lymphocytes, thymidine uptake, blast transformation and immunoglobulin (Ig) synthesis have...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1976-10-01 00:00:00
abstract：:Data from a previous study suggested that peripheral blood monocytes in patients with rheumatoid arthritis (RA) may be activated. Therefore, in this study we sought further evidence of 'presynovial' activation of monocytes. Our results show that phenotypic changes are demonstrable in peripheral blood monocytes in pati...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.1995.tb03850.x
更新日期：1995-12-01 00:00:00
abstract：:Immunotherapy of murine autoimmune and allergic diseases by administration of peptides corresponding to the dominant T cell epitope is a reality. However, problems remain in applying this therapy to reduce antibody responses in humans. To overcome these difficulties, a preclinical system was developed to test the effe...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.2004.02521.x
更新日期：2004-08-01 00:00:00
abstract：:The immune and bone systems maintain homeostasis by interacting closely with each other. Rheumatoid arthritis is a pathological consequence of their interplay, as activated T cell immune responses result in osteoclast-mediated bone erosion. An imbalance between forkhead box protein 3 (Foxp3)+ regulatory T (Treg ) cell...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章,评审
doi：10.1111/cei.13188
更新日期：2018-10-01 00:00:00
abstract：:Clinically, corticosteroids (CS) are among the first line drugs in the therapy of autoimmune and allergic diseases and potently inhibit the activation of immune cells. However, due to their pleiotropic mode of action, the prolonged use of CS is generally associated with a range of undesirable side-effects. In this stu...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1046/j.1365-2249.2003.02225.x
更新日期：2003-09-01 00:00:00
abstract：:Antibody responses in immunoglobulin G1, G2, G3, G4, A (IgA1) and M isotypes were studied in 10 patients with an acute influenza A and in another 10 patients with a parainfluenza type 1 virus infection using radioimmunoassay with standardized monoclonal anti-immunoglobulins. A four-fold or greater increase of antibody...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1985-04-01 00:00:00
abstract：:Live Mycobacterium lepraemurium or 60Co-gamma-irradiated organisms stimulated a very weak oxidative burst compared with similar numbers of heat-killed organisms or with live M. microti. This was found to reflect the poor uptake of the living organisms rather than an absolute failure to stimulate an oxidative burst. It...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Myotonic dystrophy (MyD), an autosomal dominant neuromuscular disease with multisystem abnormalities, is associated with hypercatabolism of IgG. The hypercatabolism is not related to structural abnormalities of the IgG molecule in MyD but appears to be due to a derangement of the serum IgG concentration-fractional cat...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1982-12-01 00:00:00
abstract：:Two models of murine graft-versus-host disease (GVHD) were studied with respect to autoantibody production and development of systemic lupus erythematosus (SLE) like disease. One model was induced by injection of (B10.A(4R) x B10.A(2R]F1 mice with parental (B10.A(4R] spleen and lymph node cells (groups I GVHD), the ot...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.1990.tb05287.x
更新日期：1990-07-01 00:00:00
abstract：:Natural Killer (NK) cell activity against K562 target cells was measured in 21 female patients with primary Sjögren's syndrome (primary SS) and in 20 female normal controls matched for age. The in vitro effect of alpha-interferon (IF) and interleukin 2 (IL-2) on NK cell activity was examined and the percentage of larg...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:Polyspecific IgG given intravenously at high doses (IVIG) is used for immunomodulatory therapy in autoimmune diseases such as idiopathic thrombocytopenic purpura and myasthenia gravis. It is assumed that the clinical effect is brought about in part by a modulation of mononuclear phagocyte function, in particular by an...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.1990.tb05421.x
更新日期：1990-10-01 00:00:00
abstract：:To identify and measure the spontaneous cell-mediated cytotoxicity of natural killer cells, we used the lysis of an established lymphoblastoid cell line as target in a 4-hr 51Cr-release assay. Mononuclear cell suspensions of the peripheral blood of thirty-four patients with Crohn's disease (group CD), eleven patients ...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1980-10-01 00:00:00
abstract：:Reliable risk assessment for biotherapeutics requires accurate evaluation of risk factors associated with immunogenicity. Immunogenicity risk assessment tools were developed and applied to investigate the immunogenicity of a fully human therapeutic monoclonal antibody, ATR-107 [anti-interleukin (IL)-21 receptor] that ...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/cei.12711
更新日期：2016-01-01 00:00:00
abstract：:Environmental factors such as diet are known to play important roles in inflammatory bowel disease (IBD). Epidemiological studies have indicated that a high-fat diet is a risk factor for IBD. In addition, the balance between effector T cells (T(eff)) and regulatory T cells (T(reg)) contributes to the pathogenesis of m...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.2007.03530.x
更新日期：2008-01-01 00:00:00
abstract：:Cell-mediated cytotoxicity was examined in thirty-seven patients with systemic sclerosis using both whole blood and purified peripheral blood mononuclear cells (PBM) to measure antibody-dependent (ADCC) and phytohaemagglutinin (PHA) induced lymphocyte cytotoxicity to 51Cr-labelled Chang liver cells. In twenty-three mi...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1979-04-01 00:00:00
abstract：:The role of complement has been studied in the autologous phase of nephrotoxic nephritis (NTN) in rabbits. No reduction in glomerular fibrin deposition, crescent formation or protection from renal failure was observed in either the standard model of NTN when decomplementing doses of cobra venom factor (CVF) were given...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1976-06-01 00:00:00
abstract：:This study tested the hypothesis that pregnant female baboons exhibit increased levels of various inflammatory mediators in serum resulting from ligature-induced periodontitis, and that these profiles would relate to periodontal disease severity/extent in the animals. The animals were sampled at baseline (B), mid-preg...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/j.1365-2249.2010.04202.x
更新日期：2010-12-01 00:00:00
abstract：:In vivo anti-nuclear antibody (ANA) was observed by direct immunofluorescence microscopy in epithelial cell nuclei in forty-four biopsies from thirty-three patients. The tissue containing the ANA was macroscopically normal in twenty-seven patients. The thirty-three patients with in vivo biopsy ANA included twenty-thre...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1979-12-01 00:00:00
abstract：:Circulating levels of eosinophil cationic protein (ECP), an eosinophil specific granule protein, and numbers of peripheral eosinophils were determined in 42 patients with rheumatoid arthritis. At the time of the investigation the patients were without drug treatment. They had normal blood counts of eosinophils but on ...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：:Nucleotide-binding, oligomerization domain (NOD)-like receptor family, pyrin domain containing 3 (NLRP3) gene polymorphism was reported to be associated with susceptibility, disease activity or anti-tumour necrosis factor (TNF) treatment response in rheumatoid arthritis (RA). However, the roles of NLRP3 inflammasome i...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/cei.13167
更新日期：2018-11-01 00:00:00
abstract：:Characterization of cold reactive lymphocytotoxic antibodies present in sera from Thai adults with malaria revealed that the antibodies are predominantly 19S (IgM), directed against both autologous and allogeneic mononuclear cells, complement-dependent, present in titres ranging from 1:2 to 1:16, and exhibit greater l...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1983-02-01 00:00:00
abstract：:Silicosis is a chronic progressive granulomatous and fibrotic lung disease caused by inhaled silica. Although the causative agent is known, the pathogenesis, especially the immunologic response, is not well understood. We examined two important components of cell-mediated immune responses in the lungs of rats with sil...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1989-08-01 00:00:00
abstract：:Intravenous immune globulin (IVIG) preparations are efficacious and safe products in use world-wide. Although rare, side-effects of IVIG may be serious, even life-threatening, and clinicians should be aware of their potential occurrence. This article summarizes most of the adverse experiences with IVIG reported in the...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章,评审
doi：
更新日期：1994-07-01 00:00:00
abstract：:In a study of 75 alveolar cell co-cultures from 55 HIV-seropositive subjects, p24 antigen production was identified by ELISA in 11 out of 26 (42%) of unseparated cell cultures, 15 out of 39 (38%) purified alveolar macrophage cultures and eight out of 10 purified alveolar lymphocyte samples. Positivity in unseparated c...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：
更新日期：1991-06-01 00:00:00
abstract：:The murine immune system is not necessarily identical to it human counterpart, which has led to the construction of humanized mice. The current study analysed whether or not a human immune system contained within the non-obese diabetic (NOD)-Rag1(null) -γ chain(null) (NRG) mouse model was an accurate representation of...
journal_title：Clinical and experimental immunology
pub_type： 杂志文章
doi：10.1111/cei.12192
更新日期：2013-12-01 00:00:00
