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)

Interleukin-4 (IL-4) has been shown to induce IgE synthesis by peripheral blood mononuclear cells (PBMC) of normal donors in vitro. However, induction of PBMC of patients with common variable immunodeficiency (CVI) with IL-4 resulted in IgE production in only two out of eight cases tested. PBMC of the first patient that produced IgE in response to IL-4 also secreted normal levels of IL-4 upon activation. PBMC of the second patient secreted very low levels of IL-4 in vitro which may account for the very low serum IgE levels in this patient. Of the other six patients who had very low serum IgE levels and whose PBMC failed to produce IgE in response to IL-4 in vitro, five did not secrete IL-4 upon in vitro activation. The capacity of the T cells to produce IL-4 was intact in the sixth patient. Collectively our data indicate that PBMC of the majority of patients with CVI are defective since they failed to respond appropriately to IL-4 and they failed to produce IL-4, contributing to the view that CVI is a heterogeneous disorder in which a variety of T and B cell defects occur.
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PMID:The capacity of interleukin-4 to induce in vitro IgE synthesis by B cells of patients with common variable immunodeficiency. 211 18

Ataxia telangiectasia (AT) is a primary immunodeficiency syndrome characterized by cerebellar ataxia, extrapyramidal signs, oculocutaneous telangiectasia, recurrent respiratory infections and development of malignancies. AT is a complex autosomal recessive disorder involving several systems other than lymphoid cells or the central nervous system. Such a diversity of abnormalities includes hypersensitivity of fibroblasts and lymphocytes to ionizing radiation (anomaly of DNA repair), non-random chromosomal rearrangements in lymphocytes, elevated serum level of alpha-fetoprotein, premature aging and endocrine disorders. A DNA processing or repair protein is the suspected common denominator in this pathology. Whatever the putative common underlying mechanism, AT patients have profound alterations of the humoral and cellular immune system whose mechanisms should be discussed in terms similar to those for other immunodeficiency diseases. The usual immunological abnormalities in this disease include decreased levels of CD 3 and CD 4 positive T lymphocytes, impaired delayed hypersensitivity, hypoplasia of thymus, decreased blast transformation in vitro in response to mitogen or antigenic stimulation, and decreased levels of serum IgA, IgE, and IgG 2 subclass. In this paper, the results of our recent studies on the defects of B cells in patients with AT were presented. (1) We found that the geometric means of IgA production in the supernatants of the lymphoblastoid cell lines established by EB virus, from all patients with AT, were significantly lower than those from healthy controls (P less than 0.01). (2) IgG subclasses of the patients' sera were also measured by ELISA, and IgG 4 was defective in four cases among six patients with AT.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Ataxia telangiectasia and characterization of its immunological disorders]. 215 3

Epstein-Barr virus has been implicated in the pathogenesis of primary brain lymphoma in patients with congenital or acquired immunodeficiency states. To examine its role in central nervous system (CNS) lymphoma in the immunocompetent host, Epstein-Barr virologic studies were performed in six consecutive cases seen at our institutions. Virus DNA sequences were detected in only one of three tumor specimens studied by Southern blot hybridization. Serologic studies from the entire cohort disclosed past virus infection; however, antibody reactivity to virus-specific antigens in cerebrospinal fluid was limited to the patient harboring genome-positive tumor. Immunologic studies revealed hyperimmunoglobulin-E (range, 720 to 1040 micrograms/ml) in each of four patients tested. Our findings suggest that Epstein-Barr virus is an infrequent pathogen in nonimmunosuppressed patients with primary CNS lymphoma. Abnormalities in isotype-specific regulation of IgE production are common in such patients and may have pathogenetic implications.
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PMID:Primary brain lymphoma in the immunocompetent host: relation to Epstein-Barr virus. 217 60

During autumn- and winter epidemics respiratory syncytial (RS) virus accounts for the majority of respiratory infections in infants and young children. In case of an acute lower respiratory tract infection, RS virus can induce serious symptoms. These are age-dependent. The most important symptoms in babies and toddlers are dyspnea, wheezing, cyanosis and apneas. In the case of respiratory insufficiency or fatigue, as well as recurrent apneas, mechanical ventilation is required. Diagnosis can be made using a direct immunofluorescence technique with monoclonal antibodies. To control the risk of nosocomial RS virus infections, isolation precautions are necessary. The overall mortality is low (less than 1%), but may be strikingly higher in children at risk: babies less than one month of age, preterm babies, infants with congenital heart- or pre-existent respiratory diseases, and those with severe immunodeficiency syndromes. In these subgroups therapy with ribavirin (Virazole) may be beneficial, although until now there is no strong evidence for the effectiveness of this antiviral agent. The majority of the children will have recurrent symptoms of dyspnea and wheezing over the subsequent years following the RS virus infection. In acute lower respiratory RS virus infection, there may be IgE mediated hypersensitivity reactions to viral agents, with release of chemical mediators of airway obstruction. The pathophysiological mechanisms might be comparable to those in patients with asthma.
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PMID:[Once more a discussion of the RSV affair]. 218 Jan 18

The authors carried out immunological examination of 68 patients with ischemic heart disease with a history of one or several myocardial infarctions. The patients showed changes of the immune status, mainly of the humoral type due to allergic reactions caused by immune complexes and also anaphylactic reactions provoked by IgE-antibodies. The above changes occurred against the background of T-cellular immunodeficiency and increased content of B-lymphocytes. Increase of the level of indices of unspecific defence is a manifestation of compensatory reactions directed to elimination of the increased content of circulating immune complexes from the body of the patients.
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PMID:[The immunological indices of patients who have had a myocardial infarct]. 223 90

Forty-five homosexual male subjects with human immunodeficiency virus (HIV) infection, who received care during a 4-month period in an ambulatory center for acquired immunodeficiency syndrome (AIDS), were classified according to their principal presentation with characteristic secondary infections (CDC group IV C, N = 28), cancers (IV D, N = 10), or limited or no symptoms (groups II, III, IV A, or IV B, N = 7). The incidence of allergic rhinitis and conjunctivitis increased after HIV seroconversion by approximately twofold in patients of groups IV C and IV D. The mean serum concentration of IgE was significantly higher for group IV C than for the other HIV-seropositive groups and for a control group of 45 HIV-seronegative homosexual male subjects from the same community who were studied concurrently. More patients in groups IV C and IV D had positive RASTs for a panel of environmental antigens than patients in the other HIV-seropositive groups and the HIV-seronegative control group. Patients with AIDS presenting with typical secondary infections thus have a high frequency of some clinical and laboratory manifestations of allergic diseases.
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PMID:Elevated serum concentrations of IgE antibodies to environmental antigens in HIV-seropositive male homosexuals. 226 44

A primary immunodeficiency patient was analysed whose serum IgG and IgE were extremely low but whose IgM and IgA levels were within the normal range or elevated. Southern blot analysis indicated no deletion of structural genes coding for C gamma, C epsilon, or C alpha. The majority of the patient's peripheral B cells expressed IgM and IgD on the surface yet IgG-positive B cells were not detected, suggesting that the defect is in a switch-recombination process from IgM to IgG. The RFLP pattern detected with the S mu and S gamma DNA regions revealed that there was no deletion or large mutation in the switch region DNA. An in vitro IgG production system with pokeweed mitogen showed an abnormality at the transcriptional level and the defects were in both the patient's T and B cells. Addition of recombinant IL-4 (rIL-4) to the normal B cells enhanced IgG production but the patient's B cells did not respond to rIL-4, although the IL-4 receptor was present at the normal level. Messenger RNA and IL-4 protein were not produced in the patient's T cells upon stimulation with phorbol ester and calcium ionophore, whereas IL-2 was normally produced. The patient's lymphocytes showed a proliferative response to various mitogens, including phorbol ester. The transcripts of unrearranged C gamma region genes were not detected in the patient's lymphocytes, suggesting that the chromatin structure of the S gamma region may not be open. These results suggest that the transcriptional defects at the S gamma region gene in B cells and at the IL-4 gene in the T cells may be responsible for the present IgG immunodeficiency. There might be a common transcriptional system operating in a certain step in the activation of both genes.
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PMID:Selective IgG deficiency with a transcriptional disorder of the gamma switching region gene and the IL-4 gene. 227 96

The study of differentiation antigens of circulating mononuclear cells in 70 patients with primary immunodeficiency (PID) using monoclonal antibodies allowed us to define phenotypic profiles that are characteristic of the different described syndromes. In common variable immunodeficiency we found percentages of lymphocytes within normal ranges, and an altered CD4/CD8 ratio. In sex-linked agammaglobulinemia, absence of B lymphocytes with normal distribution of regulatory populations (CD4/CD8) were found. These results allow us to distinguish two clinically and infectologically similar conditions. In selective IgA deficiency, distribution of lymphocytic populations was normal. In immunodeficiency with hyper IgM, considered up to date as an abnormal maturation of B lymphocytes, we observed a deficiency in cellular immune response, and a phenotypic profile characterized by: decreased number of CD3 cells, inverted CD4/CD8 ratio, and increased CD38 population; this profile being similar to the one that we found in predominantly cellular immunodeficiency. In predominantly cell-mediated immunodeficiency and in those immunodeficiencies associated to other defects (such as: hyper IgE syndrome, Di George syndrome), the most important finding was a significative increase in CD38 population. Although it's not possible to consider on this basis that there is a defect at the thymic level of T-cells maturation, the high levels of circulating CD38 cells were a clear indication of altered cellular immune response in our series of patients. Patients with predominantly cell-mediated immunodeficiency showed the lowest levels of CD4 cells and the corresponding inversion of CD4/CD8 ratio. In Di George syndrome we found a markedly diminished CD8 population that differentiates this entity from the rest of the studied syndromes. In chronic mucocutaneous candidosis distribution of lymphocytic populations was normal, but a significative increase in the percentages of CD11b+ cells was observed. In patients with antibodies deficiency that received substitutive treatment with gammaglobulin we found no variations in lymphocytic populations distribution. In the group of patients with altered cellular immunity treated with thymic hormones, observed phenotypic changes (increase in T-cells population, trend to normalization in CD4/CD8 ratio, and decrease in CD38 population) were transient, and lasted only during the treatment period. We considered that describing these phenotypic profiles is a useful diagnosis tool when evaluating patients with PID, since these profiles are characteristic and very stable.
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PMID:[Phenotypic changes in the mononuclear cells of patients with primary immunodeficiencies]. 228 62

Hyper IgM with low IgG and IgA is a rare humoral immunodeficiency. We presently report 12 new observations which have been clinically and immunologically studied. On one occasion the syndrome was found to be associated with congenital rubella. Since 10/12 children were male, X-linked inheritance is suggested which has been confirmed in 2 cases. In most cases (9/12), the first infections occurred within the first year of life. The syndrome is causing upper and lower respiratory tract infections due to bacteria, as well as gut infections. Lymphoid organ hyperplasia has been noted in 11/12 patients. Polyclonal hyper IgM serum contrasts with low or absent IgG, IgA and IgE. In some instances, some IgM antibody response was detected. A dysfunction of cellular immunity was not detected. Autoimmunity was detected in 3 patients. Finally, transient neutropenia occurred in 50% of the patients. Intravenous immunoglobulin G substitution treatment resulted in a significant reduction in the occurrence of infections as well as in normalization of growth rate. Immunoglobulin infusion also frequently induced correction of hyper IgM and neutropenia.
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PMID:[Hypogammaglobulinemia G and A with hypergammaglobulinemia M. Apropos of 12 cases]. 236 67

Sera from 106 blood donors, 40 patients with primary immunodeficiencies (ID) treated with gamma-globulin, and 46 patients with selective IgA deficiency were analyzed by an enzyme-linked immunosorbent assay for anti-IgA antibodies. Increased levels of antibodies to IgA were found in 5.6% of the blood donors, 17.5% of the ID patients, and 36.8% of the isolated IgA deficiencies. The percentage was higher in patients with IgA and IgG2 deficiencies (50%). The percentage of patients having increased levels of anti-IgA antibodies was similar to the total prevalence of the 10 other autoantibodies studied. These anti-IgA antibodies were mainly of the IgG class, except from one blood donor with IgM antibodies, and two patients, one with isolated IgA deficiency and the other with common variable immunodeficiency who had anti-IgA antibodies of the IgE class. The latter patient developed a near fatal anaphylactic reaction when intravenous gamma-globulin was administered. Most of the patients with severe adverse reactions to gamma-globulin did not present anti-IgA antibodies. Our data suggest that at least in some immunodeficient patients the elevated amounts of anti-IgA antibodies are not related to the administration of exogenous IgA. The importance of measuring anti-IgA antibodies of the IgG and IgE isotypes in IgA-deficient patients as well as in patients in treatment with gamma-globulin is emphasized.
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PMID:Anti-IgA antibodies in selective IgA deficiency and in primary immunodeficient patients treated with gamma-globulin. 245 Jul 12


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