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)

Genetic diagnosis is a revolutionary method that makes possible simultaneous viral isolation (detection) and identification. The method is so specific, sensitive, and rapid (non-culture) that leads not only to the diagnosis of viral infection, but also to prediction of the chemotherapy, monitoring during the therapy, and judging the efficacy of the treatment. Moreover, it contributes to understanding the disease pathophysiology. The qualitative results are sufficient for diagnosis, but quantitative analysis is sometimes necessary for the prediction of the efficacy and monitoring during treatment. It occasionally requires the numbers of genomic expression, the number of DNA/RNA copies, and the detection of point mutations for drug resistance. Many emerging and re-emerging infectious diseases, such as AIDS and viral hepatitis, are induced by viral infection via blood. The main causative agents of blood-borne viral infection are hepatitis B virus (HBV), hepatitis C virus (HCV), human immunodeficiency virus (HIV), human T cell leukemia virus type 1 (HTLV1), cytomegalovirus (CMV), Epstein-Barr virus (EBV), and human parvovirus B19. They play main roles in viral hospital infection. The risk of them being transmitted by transfusion of screened blood is very low, but it is always possible that infection may occur in a window period even after extensive blood screening tests. Therefore, to shorten a window period, genetic examinations will be accepted for screening tests in the near future. Prioritization of genetic examinations is needed to select the adequate method and sampling. After examinations, false positive and false negative results have to be extensively read out whether due to contamination or inhibition by agent such as heparin and hemoglobin. The causative virus should be decided by carefully eliminating passenger viruses or latent viruses. Because genetic examinations are so useful but occasionally yield false positive and negative results, genetic diagnosis should be judged totally by combination with other examinations, clinical signs, and clinical symptoms.
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PMID:[The role of genetic diagnosis in clinics--from the choice of ordering until reading the data]. 1059 Jun 77

A pair matched case/control study was conducted from January 1991 to 30 June 1992 in order to define clinical and laboratory findings associated with DMAC infection in AIDS patients. Since DMAC infection is usually associated with advanced immunodeficiency, and therefore also with other opportunistic illnesses, in addition to the number of CD4+ lymphocytes, cases and controls were matched using the following criteria: date of AIDS diagnosis and antiretroviral therapy, number and severity of associated opportunistic infections and, whenever possible, type of Pneumocystis carinii prophylaxis, age and gender, in this order of relevance. Cases (defined as patients presenting at least one positive culture for MAC at a normally sterile site) and controls presented CD4+ lymphocyte counts below 50 cel/mm3. A significantly higher prevalence of general, digestive and respiratory signs, increased LDH levels, low hemoglobin levels and CD4+ cell counts were recorded for cases when compared to controls. Increases in gammaGT and alkaline phosphatase levels seen in cases were also recorded for controls. In conclusion, the strategy we used for selecting controls allowed us to detect laboratory findings associated to DMAC infection not found in other advanced immunosupressed AIDS patients without DMAC.
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PMID:Clinical and laboratory findings of disseminated Mycobacterium avium complex infection (DMAC) in a pair matched case-control study. 1060 40

The objective of this article was to delineate the causes of avascular necrosis (AVN) in patients with human immunodeficiency virus (HIV). HIV-infected patients with pain in large joints were prospectively screened. Patients had radiographs and magnetic resonance imaging of their affected joints. Serum lipids, anticardiolipin antibody levels (IgG, IgM), and hemoglobin electrophoresis were performed on all patients who had radiographic studies. Medical records were screened for factors known to predispose for AVN. Eight patients completed the protocol, and five patients had AVN in seven joints. No common laboratory abnormality was identified in the patients with AVN. All of the patients with AVN had a history of steroid use; four of five patients having taken steroids for HIV-related diseases. The cause of AVN does not appear to be directly related to the disease, but to steroid treatment for manifestations of the disease.
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PMID:Avascular necrosis of bone in human immunodeficiency virus infected patients. 1066 50

X-linked thrombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314050) is a rare disorder characterized by thrombocytopenia, platelet dysfunction, splenomegaly, reticulocytosis, and unbalanced hemoglobin chain synthesis. In a 4-generation family, the gene responsible for XLTT was mapped to the X chromosome, short arm, bands 11-12 (band Xp11-12). The maximum lod score possible in this family, 2.39, was obtained for markers DXS8054 and DXS1003, at a recombination fraction of 0. Recombination events observed for XLTT and markers DXS8080 and DXS8023 or DXS991 define a critical region that is less than or equal to 7.65 KcM and contains the gene responsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic variant X-linked thrombocytopenia (XLT; OMIM accession number 313900). Manifestations of WAS include thrombocytopenia, eczema, and immunodeficiency. In WAS/XLT the platelets are usually small, and bleeding is proportional to the degree of thrombocytopenia. In contrast, in XLTT the platelet morphology is normal, and the bleeding time is disproportionately prolonged. In this study no alteration in the WAS gene was detected by Northern blot or Western blot analysis, flow cytometry, or complimentary DNA dideoxynucleotide fingerprinting or sequencing. As has been reported for WAS and some cases of XLT, almost total inactivation of the XLTT gene-bearing X chromosome was observed in granulocytes and peripheral blood mononuclear cells from 1 asymptomatic obligate carrier. The XLTT carrier previously found to have an elevated alpha:beta hemoglobin chain ratio had a skewed, but not clonal, X-inactivation pattern favoring activity of the abnormal allele. Clinical differences and results of the mutation analyses make it very unlikely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytopenia mapping to band Xp11-12 is a genetically heterogeneous disorder.
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PMID:Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. 1073 94

Patients seropositive for human immunodeficiency virus (HIV) type 1 and seronegative control subjects were categorized by their haptoglobin phenotypes, which were determined by electrophoresis of hemoglobin-supplemented plasma samples followed by benzidine staining. The CD4 cell counts, determined by flow cytometry from peripheral blood mononuclear cells according to subject categories, were severely diminished in seropositive patients with the Hp2-2 phenotype (P<.025). In contrast, the CD4 cell counts for patients with the Hp0 phenotype remained relatively high (P<.025), compared with those of the controls. In seronegative patients, CD4 cell counts were generally high (P<.005), but they were more elevated in subjects with Hp2-2 and Hp1-1, although the differences were not significant. Thus, the Hp2-2 phenotype is associated with poor outcome in HIV-1 infection, whereas the Hp0 phenotype is associated with a better prognosis once the patient is infected with HIV-1. Haptoglobin polymorphism plays a significant role in HIV-1 infection and transmission.
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PMID:Haptoglobin polymorphism in human immunodeficiency virus infection: Hp0 phenotype limits depletion of CD4 cell counts in HIV-1-seropositive individuals. 1076 81

We present a four-month-old girl with severe hemolytic anemia and reticulocytopenia. This case is the youngest with hemolytic anemia encountered in our hospital. Findings of autoimmune hemolytic anemia were preceded by diphtheria-pertussis-tetanus (DPT) and oral polio vaccines which were given one month before. At admission, she had heart failure, her hemoglobin (Hb) was 27 gm/L, hematocrit (Hct) 8.5 percent, reticulocyte count 0.2 percent, and gamma and non-gamma Coombs tests were positive. Plasma Hb was 23 percent (N < 3%) and haptoglobin 0 mg/dl. Bone marrow aspiration smear revealed erythroid hyperplasia. No infection, immunodeficiency or malignancy could be established. She received multiple transfusions and did not respond to methyl prednisolone therapy of seven days' duration, but was successfully treated with a combination of immunosuppressive therapy (cyclophosphamide, 6-mercaptopurine, intravenous immunoglobulin and prednisolone, which was added later). This case is interesting in that the disease was preceded by DPT vaccination, was associated with reticulocytopenia and was resistant to steroids.
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PMID:A warm antibody mediated acute hemolytic anemia with reticulocytopenia in a four-month-old girl requiring immunosuppressive therapy. 1077 Jun 64

In BALB/c mice immunodeficiency was induced by the transfer of lymphocytes immune to alloantigen. This model is one of experimental models of AIDS. The work was aimed at the study of disturbances in the immuno--and erythropoiesis in immunodeficient mice. The state of erythropoiesis was evaluated by the level of level of hemoglobin, hematocrit and the content of reticulocytes in peripheral blood, by the number of erythroid bursitis-forming units and the percentage of erythrokaryocytes in the marrow, as well as by the number of colony-forming units in the spleen by days 5 and 8. The study revealed that in BALB/c mice hypoplastic anemia, accompanied by the decreased phagocytic activity of macrophages and the reduced production of interleukin 1 and tumor necrosis factor, developed on months 5-6 of the disease. Macrophagal dysfunction was supposed to be one of the causes of hypoplastic anemia in immunodeficient mice.
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PMID:[Immuno- and erythropoiesis in mice with graft vs host disease against a background of immunodeficiency]. 1085 53

The objective of this cross-sectional study was to identify risk factors for anemia among human immunodeficiency virus (HIV)-positive pregnant women in Dar es Salaam, Tanzania. Baseline data from 1064 women enrolled in a clinical trial on the effect of vitamin supplementation in HIV infection were examined to identify potential determinants of anemia. The mean hemoglobin (Hb) level was 94 g/L, and the prevalence of severe anemia (Hb < 85 g/L) was 28%; 83% of the women had Hb < 110 g/L. Iron deficiency and infectious disease appeared to be the predominant causes of anemia. Significant independent associations with severe anemia were observed for women with body mass index (BMI) < 19 kg/m(2) compared with women with BMI > 24 kg/m(2) [odds ratio (OR) 3.13, 95% confidence interval (CI): 1. 37-7.14); malaria parasite densities > 1000/mm(3) (OR 2.70, CI: 1. 58-4.61) compared with women with no parasites; eating soil during early pregnancy (OR 2.47, CI: 1.66-3.69); CD4+ cell count < 200/microL compared with CD4+ count > 500/microL (OR 2.70, CI: 1. 42-5.12); and serum retinol levels < 70 micromol/L (OR 2.45, CI: 1. 44-4.17) compared with women with retinol levels > 1.05 micromol/L. The most significant risk factors associated with severe anemia in this population are preventable. Public health recommendations include increasing the effectiveness of iron supplementation and malaria management during pregnancy, and providing health education messages that increase awareness of the potentially adverse nutritional consequences of eating soil during pregnancy.
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PMID:Nutritional factors and infectious disease contribute to anemia among pregnant women with human immunodeficiency virus in Tanzania. 1091 7

This randomized, placebo-controlled trial examine the long-term effect of granulocyte colony-stimulating factor (G-CSF) on absolute numbers of CD34+ progenitor cells and progenitor cell function in human immunodeficiency virus (HIV)-infected patients. G-CSF (300 microg filgrastim) or placebo was given three times weekly for 12 weeks to 30 HIV-infected patients that had been treated with HAART for at least 24 weeks and not yet achieved CD4 counts above 350 CD4+ cells/microl. Blood samples were collected at weeks 0, 2, 4, 8, and 12, and again 12 weeks after termination of the G-CSF treatment. Significant increase in absolute numbers of circulating CD34+ cells was detected in the treatment group (P = 0.006). The function of progenitor cells was examined in vitro using a colony-forming unit (CFU) assay, and increase in the number of CFU/ml was detected (P = 0.005). In order to estimate the effect of G-CSF on in vivo function of progenitors the white-blood count was determined. Significant increase in white-blood count was found (P < 0.001), while hemoglobin and platelet count decreased (P = 0.001 and P = 0.013, respectively). Significant increase in the CD4 count occurred, but correlation between the numbers of progenitors and the CD4 count was not found. These data suggest that G-CSF mainly increases the number and differentiation of myeloid progenitors.
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PMID:The effect of long-term treatment with granulocyte colony-stimulating factor on hematopoiesis in HIV-infected individuals. 1097 7

Macrophages are suspected to play a major role in human immunodeficiency virus (HIV) infection pathogenesis, not only by their contribution to virus dissemination and persistence in the host but also through the dysregulation of immune functions. The production of NO, a highly reactive free radical, is thought to act as an important component of the host immune response in several viral infections. The aim of this study was to evaluate the effects of HIV type 1 (HIV-1) Ba-L replication on inducible nitric oxide synthase (iNOS) mRNA expression in primary cultures of human monocyte-derived macrophages (MDM) and then examine the effects of NO production on the level of HIV-1 replication. Significant induction of the iNOS gene was observed in cultured MDM concomitantly with the peak of virus replication. However, this induction was not accompanied by a measurable production of NO, suggesting a weak synthesis of NO. Surprisingly, exposure to low concentrations of a NO-generating compound (sodium nitroprusside) and L-arginine, the natural substrate of iNOS, results in a significant increase in HIV replication. Accordingly, reduction of L-arginine bioavailability after addition of arginase to the medium significantly reduced HIV replication. The specific involvement of NO was further demonstrated by a dose-dependent inhibition of viral replication that was observed in infected macrophages exposed to N(G)-monomethyl L-arginine and N(G)-nitro-L-arginine methyl ester (L-NAME), two inhibitors of the iNOS. Moreover, an excess of L-arginine reversed the addition of L-NAME, confirming that an arginine-dependent mechanism is involved. Finally, inhibitory effects of hemoglobin which can trap free NO in culture supernatants and in biological fluids in vivo confirmed that endogenously produced NO could interfere with HIV replication in human macrophages.
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PMID:Nitric oxide synthesis enhances human immunodeficiency virus replication in primary human macrophages. 1098 33


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