Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over recent years there has been a great deal of interest in the immunology, molecular biology and pathology of psoriasis and PsA. The pathogenetic mechanisms in PsA are less well understood than those described for psoriasis. There are almost certainly genetic and immune components. What is not clear is whether there is a primary immune defect or whether unknown stimuli lead to the recruitment of the immune system and establishment of the disease; nor is it absolutely clear whether PsA is an extension of psoriasis in certain prone individuals. Vascular abnormalities are the earliest histopathological changes to occur in the psoriatic plaque and are also prominent in the psoriatic synovium. Espinoza et al (1982) have suggested there may be a primary vascular defect in PsA. The fact that vascular changes occur before infiltration of immunocompetent cells and are the first changes to resolve with treatment of psoriasis is likely to be significant. Abnormalities in the cellular kinetics and growth factor sensitivity of keratinocytes, fibroblasts and synoviocytes have been highlighted previously. The ability of these cells to produce growth factors and express HLA class II antigens demonstrates the potential for them to initiate and maintain inflammation. The development and possible increased incidence of PsA in patients with such profound immunodeficiency as acquired immune deficiency syndrome suggests that T helper cells do not play a significant role in the establishment of the disease (Arnett et al, 1991). Previously, many immune changes were described. Unfortunately they are non-specific and do not indicate a fundamental defect or marker of PsA. Vasey (1985) has suggested that insidious exposure to Gram-positive bacteria from the gut, tonsils and psoriatic plaques results in chronically stimulated monocytes, macrophages and dendritic cells. These cells are able to migrate throughout the body. Repeated microtrauma may result in the homing of these cells to sites of injury in the skin, synovium and tendons. Interaction with genetically hyperactive synoviocytes and keratinocytes with concomitant release of growth factors may precipitate early lesions of psoriasis and PsA. This hypothesis needs to be substantiated, but it ties together some of the varying observations seen. Many abnormal laboratory findings have been described. Unfortunately, none of the serological changes is sufficiently specific to be of great help in diagnosis. CRP levels and the ESR remain the best promise as markers of the inflammatory component of the arthritis, while other indicators correlate with certain facets of the disease pathology, but as yet have not found a true niche in the management of PsA.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Laboratory findings and pathology of psoriatic arthritis. 807 97

Candida is present in the flora of the oral cavity, skin, intestinal tract and vagina, and is also known to be an opportunistic pathogen. Infection with this fungus has been increasing annually along with wide spread use of broad-spectrum antimicrobial agents. The subjects included 95 patients (48 males and 47 females) who had been diagnosed as having had deep-seated candidiasis, among patients autopsied between 1982 to 1991. In regard to annual changes in deep-seated candidiasis, the incidence reached a peak in the 1985 to 1988 period, and thereafter decreased. The number of cases with leukemia as the underlying disease was the largest, 36 (37.9%), followed by malignant lymphoma in 10, and aplastic anemia 5. The number of cases with infection of the stomach was largest, 42 (44.2%), followed by the esophagus in 33 (34.7%), the lung and kidney. The cases with deep-seated candidiasis showed low values of or level of lymphocyte, hemoglobin, CRP, total protein and cholesterol and high values or levels of LDH, urea N, creatinine and total bilirubin. Cases with marked decrease in neutrophils showed no regional infiltration of inflammatory cells in any of the organs infected with Candida. Cases with disseminated candidiasis showed vascular invasion by Candida. The laboratory findings also showed that most of the cases had been undernourished and had high values of CRP which supports the presence of inflammation. Common sites of infection are the esophagus, stomach, and intestinal tract. In the presence of granulocytopenia and immunodeficiency, tissue invasion become severe and associated with vascular invasion.
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PMID:[Retrospective analysis of deep-seated candidiasis among cases autopsied between 1982 to 1991]. 808 55

Knowledge of the physiopathological basis of the fibrogenesis in the hepatopathy by hepatitis C virus (HCV) is critical. We describe the evolution of the infection by HCV after a ten-year follow-up in patients with antibody immunodeficiency (common variable immunodeficiency (n=3) (IDVC), IgG subclasses deficiency (n=2), specific deficiency of antibodies formation (n=1). The patients were treated with a prepared intravenous immunoglobulin that was associated later with an HCV hepatitis outbreak. Five of the six patients had a positive overwhelming course (CRP) for HCV and all have changes in their hepatic biochemistry during the exposure period [ Analine Aminotransferase (ALT) (from 280 to 2720 U/L) and Aspartate Aminotransferase (AST) (from 400 to 2600) U/L)]. In less than one year, two patients with IDVC developed cirrhosis and the other patient with IDVC, an active chronic hepatitis while the other patients cured the infection without the treatment. The patients with IDVC presented lower IgG levels than the patients with antibodies deficiency before the exposure (average: seric IgG = 697 mg/dl and 1480 mg/dl respectively) and had, in addition, lower T CD4+ lymphocytes [average: T CD4+ lymphocytes = 22% (413 x 106 cells/l) and 33% (869 x 106 cells/l) respectively)]. One combination of components of humoral and cellular immunodeficiency could play a role in the accelerated evolutive course of the hepatopathy by HCV in patients with IDVC.
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PMID:[Overwhelming course of HCV disease in patients with hypogammaglobulinemia associated with cellular immunity deficiency]. 1581 19

Viral and bacterial infections may serve as an environmental trigger for the development or exacerbation of systemic lupus erythematosus (SLE) in the genetically predetermined individual. In addition, SLE patients are more prone to develop common (pneumonia, urinary tract infection, cellulitis, sepsis), chronic (tuberculosis), and opportunistic infections possibly due to inherit genetic and immunologic defects (complement deficiencies, mannose-binding lectin [MBL] polymorphisms, elevated Fcgamma III and GM-CSF levels, osteopontion polymorphism), but also due to the broad spectrum immunosuppressive agents that are part of therapy for severe manifestations of the disease. Hence, SLE patients are considered a high-risk population, where identification and treatment of chronic infections such as tuberculosis, hepatitis B or human immunodeficiency virus, are important prior to the institution of immunosuppression so as to prevent reactivation or exacerbation of the infection. Infections in SLE patients remain a source of morbidity and mortality. A caveat often encountered is to distinguish between a lupus flare and an acute infection; in such cases parameters including elevated CRP (and adhesion molecules) may aid in the diagnosis of infection. Recent research has provided convincing evidence that EBV infection may play a major role not only in molecular mimicry but also in aberrations of B cells and apoptosis leading to a state of perpetual heightened immune response in SLE.
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PMID:Infections and SLE. 1637 52

To assess the impact of intrapleural urokinase and small tube thoracostomy on the management of childhood empyema thoracis. The study population included 38 children presenting consecutively to a regional surgical unit with empyema thoracis from January 2001 to December 2003. Children with malignancy, immunodeficiency and complex intercurrent illness were excluded. Primary outcome variables were the need for second intervention and duration of stay, with other variables including duration of antibiotics, serial CRP and amelioration of pyrexia. Interventions were: tube thoracostomy (16-20 Fr) alone (n=2), tube thoracostomy (6-10 Fr)+urokinase (n=17), thoracoscopy (tube: 20-24 Fr) (n=9), thoracotomy (tube: 16-24 Fr) (n=10). There were no differences in age, weight or length of prodromal symptoms, between treatment groups. There were no differences in primary outcome variables, although no child undergoing thoracotomy required further intervention. The duration of intravenous antibiotics was similar in all groups. Amelioration of pyrexia was more rapid in children undergoing thoracotomy. There were no differences seen with regard to decline in CRP level. Small tube thoracostomy and intrapleural urokinase had a similar outcome to more invasive therapies such as thoracotomy or thoracoscopy thereby supporting the evidence base for urokinase and tube drainage as first line intervention.
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PMID:Less is best? The impact of urokinase as the first line management of empyema thoracis. 1701 25

Nephrogenic systemic fibrosis (NSF) is a rare disorder in patients with chronic kidney disease characterized by an increased tissue deposition of collagen. Its pathogenesis remains unclear. Prior studies indirectly suggested a possible impact of chronic inflammation and accelerated atherosclerosis--a common feature in kidney diseased patients--whereas recent data focused almost exclusively on gadolinium (Gd)-based MR contrast agents. Usually NSF develops a maximum of 2-3 months after Gd. Longer intervals have not yet been described. Therefore, we present the first case with an extraordinary long time course in terms of chronic inflammation. A 52-year-old Caucasian woman with end-stage renal disease was admitted to our hospital with progressive muscle weakness and skin induration resulting in growing immobility. Her past medical history revealed a secondary HPT, multiple vascular complications, a seronegative rheumatoid arthritis, and a pituitary gland adenoma. The latter conditions led to multiple MR examinations with Gd-based contrast agents, the last one more than 4 years ago. Numerous laboratory tests were performed including ESR, CRP, intact parathyroid hormone (iPTH), serum ferritin, cyclic-citrullinated peptide antibodies (CCP), ANA, ANCA, immunoelectrophoresis, and serology for hepatitis as well as human immunodeficiency virus. Eventually a skin biopsy of her left thigh was obtained. The laboratory investigation showed persistently elevated levels of CRP, ESR, serum ferritin, and iPTH, whereas all other parameters were inconspicuous. The hisology displayed typical signs of nephrogenic systemic fibrosis. NSF can occur at any time after Gd exposure in the long term. Gd is a necessary, but not the sole cause of NSF. Certain other cofactors such as chronic inflammation and accelerated atherosclerosis seem to be involved.
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PMID:Chronic inflammation and accelerated atherosclerosis as important cofactors in nephrogenic systemic fibrosis following intravenous gadolinium exposure. 1855 Dec 45

Human immunodeficiency virus (HIV)-infected patients are at a significantly higher risk from coronary heart diseases (CHD) and myocardial infarction (MI) compared to gender- and age-matched non-infected individuals. Combination antiretroviral therapy (cART) has transformed a fatal illness into a chronic stable condition. However, cART induces metabolic abnormalities in HIV-infected patients, while its role in vascular atherosclerosis is still under investigation. The use of cART is linked to inflammation - a key mechanism in atherosclerotic progression and destabilisation that precedes clinical events like MI. There is evidence of visceral fat abnormal distribution in HIV infected patients, and inflammatory changes in HIV infected patients drive the initiation, progression and, ultimately, thrombotic clinical complications induced by atherosclerosis. Visceral adipose tissue, a virtual factory for manufacturing pro-inflammatory mediators, affects the liver function. The inflamed liver promotes the development of pro-atherogenic dyslipidaemia. Pro-inflammatory cytokines released by adipocytes travel to the skeletal muscles and other peripheral tissues, worsening insulin sensitivity and leading to hyperglycaemia. Increased high sensitivity C-reactive protein (hs-CRP) inflammatory marker is associated with endothelial dysfunction in HIV-infected patients. Increased levels of monocytic nuclear factor kappa-B (NFkappa-B), a master switch in the inflammatory cascade, are documented in patients with elevated hs-CRP levels. It can be assumed that, as a result of NFkappa-B activation, hs-CRP up-regulates cytokines that contribute to MI by recruiting leukocytes and promoting thrombosis. This review focuses on the association of HIV-infection, metabolic abnormalities and known mechanisms involved in inducing accelerated atherosclerosis and inflammation in HIV-infected patients, as well as the role of lipid lowering agents in potentially preventing CHD.
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PMID:Metabolic-inflammatory changes, and accelerated atherosclerosis in HIV patients: rationale for preventative measures. 1907 47

The objective of the study was to determine the immunological characteristics of immunodeficiency and immunosuppression in children and to estimate the type of disorder within the immunological system. In the prospective study with 90 patients included, all were separated into three groups (30 patients per group) of which the first group was formed of patients with immunodeficiency; the second group of patients who were receiving the immunosuppressive therapy for autoimmune diseases for more than 6 months; and the third group being the control group formed of patients with uncomplicated bacterial infections. The follow-up parameters were gathered using questionnaire on personal and family anamnesis of patients with immunological parameters: humoral unspecific immunities (CRP, C3, C4, IL1 and IL2), humoral specific immunities (IgG, IgM, IgA and IgE) and cellular specific immunity. Concentrations of medium values of CRP in patients with immunodeficiency and on immunosuppressive therapy, statistically are significantly lower than in patients from the control group (p < 0.05). Individually increased concentrations of CRP within the groups are the indicator of acute inflammatory process and of relapse of basic disease in patients with autoimmune diseases. The concentrations of IL1 are lower than standard values in the test. in 28 patients (93%) with immunodeficiency and in 26 (87%) patients with immunosuppression. Increased concentrations in 2 (7%) patients with immunodeficiency are sign of acute inflammatory process, and 4 (14%) patients with immunosuppression and increased concentrations have shown signs of inflammation and relapse of basic disease. Concentration of IL2 in 1 (3%) patient from immunosuppressed group was increased (iatrogenic immunosuppressant). There is no statistically significant difference in concentrations of medium values of C3 and C4 complements among the studied groups of patients (p > 0.05). Concentrations of IgG in group of patients with immunodeficiency are statistically and significantly lower at medium and individual values (p < 0.001), as well as the concentrations of IgM and IgA (p < 0.05) comparing to other studied groups. Concentrations of IgE above 4.500 IU/ml were found in 3 (10%) patients with Hyper IgE syndrome. Results of our study have shown the possibility of evaluation of the level and the scale of disorder of the immunological system in children.
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PMID:[Humoral immunity in children with immunodeficiency and immunosuppression]. 1941 18

Bloody stools, diarrhea and perianal abscesses were observed from the age of two months infant. The boy received a BCG vaccination at the age of four months. The patient was diagnosed as having Crohn's disease at the age of six months by intestinal endoscopy. Based on the diagnosis, he was treated with nutrition therapy, salazosulfapyridine, and prednisolone. Fever of unknown origin occurred two months after he had taken azathioprine at the age of two years and two months. Mycobacterium tuberculosis was detected from a gastric aspirate, and he was diagnosed as having disseminated BCG infection by means of the multiplex PCR method. Chest CT showed miliary pulmonary nodules in both lungs on admission. Physical examination revealed enlarged lymphnodes, which were palpable around the neck and groin, and hepatomegaly. Laboratory data were within normal ranges except a slightly increased peripheral white blood cell and serum CRP level. He was treated with rifampicin (15 mg/kg/day), isoniazid (15 mg/kg/day) for 12 months, and streptomycin (25 mg/kg/day) for two months. He became afebrile a week after starting the treatment, and the miliary pulmonary nodules in both lungs had disappeared by 5 months after starting the treatment. An abnormality of the NEMO gene, which is the gene responsible for ectodermal dysplasia and immunodeficiency, was identified at the age of three years. It is assumed that an abnormality of the NEMO gene caused a latent BCG infection over a period of one year and ten months, and immunosuppressive medicine (azathioprine) induced a disseminated BCG infection. This case report supports that anti-tuberculosis medicine should be given to prevent disseminated BCG infection if an infant who receive immunosuppressive therapy is found to have an immune deficiency characterized by a mycobacterium infection after BCG vaccination.
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PMID:[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. 1976 66

MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed patients suffered from pneumonia, 5/27 from at least one episode of sepsis. Encapsulated bacteria (S.pneumoniae, H.influenzae) were frequently isolated. T-cell immunity showed no gross abnormalities in 14/14 patients and IFNy-secretion upon ConA-stimulation was not decreased in 6/7 patients. In 6/21 patients IgG2-deficiency was detected - in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG1-levels were detected in 11/21 patients and supra-normal IgG3-levels were seen in 8/21 patients - in 6 of the patients as combined elevation of IgG1 and IgG3. Three of the four patients with IgA/IgG2-deficiency developed multiple severe infections. Upon infections pronounced acute-phase responses were common: 7/10 patients showed CRP values above 200 mg/l. Our data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG2 may benefit from prophylactic substitution of sIgA and IgG.
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PMID:Infectious and immunologic phenotype of MECP2 duplication syndrome. 2572


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