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)

Perinatal transmission of human immunodeficiency virus is thought to occur in 25% to 50% of the offspring of infected women. Standard diagnostic methods do not permit identification of the infected newborns. To assess diagnostic methods and document the natural history of perinatal human immunodeficiency virus infection, 20 children born to human immunodeficiency virus-infected women were followed prospectively for 18 months by measuring antibody titer, Western blot profiles, and antigenemia, and the results were compared with clinical outcome. Endogenous synthesis of anti-human immunodeficiency virus IgG was demonstrated in 6 of the 8 infected children. Four children synthesized IgM against human immunodeficiency virus. Five had demonstrable p24 antigenemia. No significant differences between infected and noninfected children were noted at birth except drug withdrawal, which occurred more frequently in noninfected infants. The incidence of adenopathy, hepatomegaly, and neurologic and immunologic abnormalities in the infected children were compared with noninfected children. The distinguishing illnesses were the opportunistic infections, lobar pneumonia, and failure to thrive. Seven of the 8 infected children had human immunodeficiency virus-mediated disease by 1 year of age (Centers for Disease Control [Atlanta, Ga] P2 classification), and four had acquired immunodeficiency syndrome (Centers for Disease Control P2D). These studies offer an approach to diagnosis of human immunodeficiency virus infection in infants and document the natural history and possible outcomes of infected children.
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PMID:Natural history and serologic diagnosis of infants born to human immunodeficiency virus-infected women. 280 55

A case of common variable immunodeficiency in a pregnant woman is presented. Lobar pneumonia developed in the sixth month of the pregnancy and her serum immunoglobulin levels were found to be extremely low. She was treated successfully with immune human serum globulin and antibiotics. She delivered a full-term baby without any troubles. Various immunologic studies were done in the peripheral blood of the patient and the neonate. Consequently, functional abnormalities of helper T cells were considered to be responsible for the hypogammaglobulinemia.
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PMID:Agammaglobulinemia in a pregnant woman. 377 61

A defect in opsonisation can cause a common immunodeficiency. A mutation in mannose binding protein (MBP) caused by point mutations in the MBP gene will lead to such a defect. This type of syndrome can cause recurrent infections in infants between 6 and 18 months of age but is not generally believed to predispose to adult infections. We looked at 4 patients with severe and unusual infections in whom MBP gene mutations were the only identified cause of immunodeficiency and one patient with combined MBP and IgA deficiency. We analysed the MBP genotypes of all the patients in whom we suspected an immunodeficiency because of their clinical history. Infections seen were recurrent skin abscesses, chronic cryptosporidial diarrhoea, meningococcal meningitis with recurrent herpes simplex, and fatal klebsiella lobar pneumonia. Both sexes were affected and ages ranged from 15 to 56 years. Two patients were homozygous for codon 54 mutations, one patient had codon 52 and codon 54 mutations and was phenotypically homozygous, and two patients were heterozygous for codon 54 mutations. Individuals homozygous for MBP mutations are unusual in the general population (approximate frequency 0.3%). The occurrence of three homozygotes for MBP mutations among these five infected patients suggests that MBP deficiency may confer a life-long risk of infection.
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PMID:Mannose binding protein gene mutations associated with unusual and severe infections in adults. 750 Jul 71

This study is based on a retrospective logistic regression analysis of all human immunodeficiency virus (HIV)-infected patients with Staphylococcus aureus pneumonia (SAP) admitted to the Department of Infectious Diseases, Catholic University, Rome, Italy between January 1986 and December 1994. Nineteen patients with 24 episodes of SAP were enrolled in the study. A control group of 38 HIV-infected patients without pneumonia was included. The attack rate of SAP was 8.31/1000 HIV-related hospital admissions and the frequency, out of the total number of bacterial pneumonia observed in the study period, was 16% (24 of 154 patients). The large majority of SAP was community acquired. On the univariate analysis, intravenous drug abuse (IVDA) (P = 0.02), history of previous Pneumocystis carinii pneumonia (PCP) (P = 0.03) and cirrhosis (P = 0.03) were significant risk factors for SAP. In addition, IVDA and previous PCP were independent risk factors on multivariate analysis. All patients presented with fever associated with cough (74%), chest pain (26%) or shortness of breath (37%). Chest X-ray documented lobar pneumonia (78%), predominantly in the lower lobes, consolidation with cavitation (11%), and interstitial-nodular infiltrates (11%). Pleural effusion was present in 31% of patients. The response to therapy was favourable in 79% of patients. Recurrence occurred in 26% and death occurred in 21% of patients. Death was significantly associated with the low level (< 50 mm-3) of circulating T CD4+ cells (P = 0.03) and the recurrence of pneumonia (P = 0.03). In conclusion, the present study indicates that S. aureus is an important aetiologic agent of bacterial pneumonia in HIV-infected patients, especially if they are drug abusers with previous PCP.
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PMID:Predictors of Staphylococcus aureus pneumonia associated with human immunodeficiency virus infection. 898 27

The prevalence of bronchiectasis decreased due to the effective use of vaccines and advances of antibiotic therapy after 1970. However, it remains an important long-term morbidity of lower respiratory tract infection in developing country. To evaluate the clinical features of bronchiectasis in a tertiary hospital, we collected 21 patients with a diagnosis of bronchiectasis in Taipei Veterans General Hospital from May, 1984 to Dec, 2001 in pediatric outpatient with the admission of age below 18 years old. The diagnosis was based on the history of recurrent cough with fetid sputum, hemoptysis, or recurrent lobar pneumonia for months at least and radiological findings of lobar infiltration, tram-track like patterns, bronchiolar dilatation or honeycomb patterns. The diagnostic examinations included chest plain radiography, bronchography and chest computed tomography (CT) scans. Respiratory tract infections were the commonest cause predisposing to bronchiectasis in our study. Tuberculosis is not rare in this study. In recent years, immunodeficiency disorders have been recognized. Most patients suffered from recurrent cough and fetid sputum for years before diagnosis was established. Hemoptysis was the second common symptom in our study. The plain chest radiograph of bronchiectasis revealed dilatation of bronchial trees with honeycomb pattern or infiltration only. In recent years, chest CT became the most accurate and being noninvasive diagnostic tool. The initial treatment was primarily medical conservative therapy. Only five patients in our cases underwent pulmonary resection due to persistent hemoptysis, recurrent bacterial pneumonia or pulmonary parenchyma destruction. Most patients still suffered from recurrent pneumonia or occasional exacerbation in the long-term follow-up. In conclusion, bronchiectasis is not uncommon in pediatric population in northern Taiwan. The history of recurrent cough with fetid sputum, hemoptysis, or recurrent pneumonia were the most important clues to early diagnosis of this disease. Early diagnosis and appropriate treatment are effective in order to prevent lung abscess, empyema and pneumothorax, bronchopleural fistula, hemoptysis or cor pulmonale.
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PMID:Clinical spectrum of bronchiectasis in children. 1260 83

Primary immunodeficiency syndromes are rarely diagnosed among adults. Common variable immunodeficiency (CVID) is a congenital immunological disorder characterized by defective antibody production. In this report, we describe a 35-year-old male suffering from a common variable immunodeficiency, referred to us because of a lobar pneumonia. He had a history of recurrent pulmonary infections, which was present months before presentation, suggesting hypogammaglobulinemia. We found a severe hypogammaglobulinemia, which confirmed the diagnosis of CVID. His immunoglobulin profiles upon admission before infusion of immunoglobulin (normal ranges) were: IgG < 1.41 (8-17) g/l, IgA 0.25 (0.85-4.9) g/l, IgM 0.182 (0.5-3.7) g/l, and IgE < 2 (< 120) IU/ml. His HLA profiles were HLA A2 A26, B18 B38, Cw7, DR11 and DQ7 DQ9. He was treated with intravenous immunoglobulin. After this regimen, his IgG was maintained at > 6.0 g/L. On follow up, he has been free of opportunistic infections. In conclusion, CVID should be considered in the differential diagnosis of recurrent pneumonia in adults.
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PMID:Common variable immunodeficiency in an adult with recurrent pneumonia. 1453 87

The objective of this study was to assess the factors implicated in an increased or decreased risk of pneumonia, with particular attention to the response to highly active antiretroviral therapy (HAART) and the effect of the polysaccharide 23-valent pneumococcal vaccination in 300 human immunodeficiency virus (HIV)-infected adults followed-up for a median of 35.6 months. Pneumococcal pneumonia occurred in 12 patients and all bacterial pneumonia (pneumonia caused by Streptococcus pneumoniae or other bacteria, as well as those with negative cultures but presumably bacterial in origin) in 40 patients. In the univariate analysis, immunodepressed patients (defined as those with less than 200 CD4+ T cell/microl), those without immunological response to HAART (defined as an increase of 25% of CD4+ T lymphocyte count), patients with previous admissions to hospital and those with cotrimoxazole or Mycobacterium avium intracellulare prophylaxis showed a higher incidence of both pneumococcal and all bacterial pneumonia. Multivariate analysis demonstrated that the presence of pneumococcal pneumonia was associated with a CD4+ lymphocyte count at the time of HIV diagnosis <200 cells/microl. The multivariate model that was more valid for prediction of all bacterial pneumonia included a CD4+ T cell count <200 cells/microl and absence of immunological response to HAART. Only in patients with a baseline CD4+ T cell count lower than 200/microl and immunological response to HAART, a near significant lower incidence of all bacterial pneumonia was observed after vaccination. Thus, these results do not support an important additional protective effect of 23-valent pneumococcal vaccine in HIV-patients with immunological response to HAART.
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PMID:Pneumonia in HIV-infected patients in the HAART era: incidence, risk, and impact of the pneumococcal vaccination. 1498 52

A 55-year-old man, who had not suffered from any severe or recurrent bacterial infections previously, visited our hospital because of symptoms of fever, cough, sputum, and otorrhea. Chest X-ray and computed tomography demonstrated infiltrates in the right middle lobe and lingula. Pneumococcal pneumonia and tympanitis were diagnosed based on the isolation of Streptococcus pneumoniae from sputum and otorrhea specimens. A peripheral blood analysis showed a remarkable reduction in serum IgG level and the flow cytometric analysis of his peripheral monocytes indicated a significant reduction in Bruton's tyrosine kinase expression. Thus, we diagnosed his illness as X-linked agammaglobulinemia (XLA). Although immunoglobulin replacement therapy was performed, he developed recurrent lower respiratory tract infections. Low-dose long-term erythromycin treatment resulted in decreased frequency of respiratory tract infections. These results suggest that erythromycin therapy may be useful for the control of lower respiratory tract infections in patients with XLA. Even in adults with recurrent bacterial respiratory tract infections, the presence of XLA as an underlying disease should be considered. The effect of macrolide therapy for chronic lower respiratory tract infection associated with humoral immunodeficiency has rarely been reported. This case study may provide valuable information about macrolide therapy for such an infection in patients with humoral immunodeficiency.
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PMID:[Successful macrolide therapy for recurrent pneumococcal pneumonia in a man with X-linked agammaglobulinemia]. 1826 Mar 5

Community-acquired pneumonia (CAP) is associated with significant morbidity and mortality in Latin America and the Caribbean (LAC) region. Poverty, socioeconomic factors, and malnutrition influence the incidence and outcome of CAP in LAC. In LAC, Streptococcus pneumoniae is the most frequent microorganism responsible for CAP, (incidence: 24-78%); the incidence of atypical microorganisms is similar to other regions of the world. Human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) is a growing problem in the LAC region, with the Caribbean being the second most affected area worldwide after Sub-Saharan Africa. Pneumococcal pneumonia remains the most common cause of CAP in HIV-infected patients, but Pneumocystis jirovecii and tuberculosis (TB) are also common in this population. The heterogeneity of the health care systems and social inequity between different countries in LAC, and even between different settings inside the same country, is a difficult issue. TB, including multidrug-resistant TB, is several times more common in South American and Central American countries compared with North America. Furthermore, hantaviruses circulating in the Americas (new world hantaviruses) generate a severe respiratory disease called hantavirus pulmonary syndrome, with an associated mortality as high as 50%. More than 30 hantaviruses have been reported in the Western Hemisphere, with more frequent cases registered in the southern cone (Argentina, Chile, Uruguay, Paraguay, Bolivia, and Brazil). Respiratory viruses (particularly influenza) remain an important cause of morbidity and mortality, particularly in the elderly. Low rates of vaccination (against influenza as well as pneumococcus) may heighten the risk of these infections in low- and middle-income countries.
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PMID:Community-Acquired Pneumonia in Latin America. 2796 Feb 10

Although the Pseudomonas aeruginosa infection is well known and frequently found in hospitals and nursing care facilities, many cases are also reported outside these boundaries. In general, this pathogen infects debilitated patients either by comorbidities or by any form of immunodeficiency. In cases of respiratory infection, tobacco abuse seems to play an important role as a risk factor. In previously healthy patients, community-acquired pneumonia (CAP) with P. aeruginosa as the etiological agent is extremely rare, and unlike the cases involving immunocompromised or hospitalized patients, the outcome is severe, and is fatal in up to 61.1% of cases. Aerosolized contaminated water or solutions are closely linked to the development of respiratory tract infection. In this setting, metalworking fluids used in factories may be implicated in CAP involving previously healthy people. The authors report the case of a middle-aged man who worked in a metalworking factory and presented a right upper lobar pneumonia with a rapid fatal outcome. P. aeruginosa was cultured from blood and tracheal aspirates. The autopsy findings confirmed a hemorrhagic necrotizing pneumonia with bacteria-invading vasculitis and thrombosis. A culture of the metalworking fluid of the factory was also positive for P. aeruginosa. The pulsed-field gel electrophoresis showed that both strains (blood culture and metalworking fluid) were genetically indistinguishable. The authors highlight the occupational risk for the development of this P.aeruginosa-infection in healthy people.
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PMID:Community-acquired Pseudomonas aeruginosa-pneumonia in a previously healthy man occupationally exposed to metalworking fluids. 2857 16


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