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

A 14-year-old girl had a granulomatous conjunctival lesion, proven histologically to be malakoplakia. This is the first reported case of malakoplakia arising from conjunctiva, although three others have involved the ocular adnexa. Malakoplakia is a rare disease often associated with immunodeficiency and is characterized by the presence of intracellular inclusions and organisms due to deficient intracellular bacteriolysis. Medical management is difficult because an effective antibacterial agent requires three properties: activity against the organism involved, good intracellular penetration, and the capacity to maintain its effectiveness in the intracellular milieu. Escherichia coli was isolated from a biopsy specimen and from conjunctival swabs. Treatment with systemic ciprofloxacin, which has good intracellular penetration and activity, led to rapid resolution of the lesion. This is the first report concerning the successful use of this drug to treat malakoplakia of any organ.
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PMID:Medical management of ocular malakoplakia. 155 7

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system caused by the JC virus (JCV), a human papovavirus. PML is a relatively rare disease seen predominantly in immunocompromised individuals and is a frequent complication observed in AIDS patients. The significantly higher incidence of PML in AIDS patients than in other immunosuppressive disorders has suggested that the presence of human immunodeficiency virus type 1 (HIV-1) in the brain may directly or indirectly contribute to the pathogenesis of this disease. In the present study we have examined the expression of the JCV genome in both glial and non-glial cells in the presence of HIV-1 regulatory proteins. We find that the HIV-1-encoded trans-regulatory protein tat increases the basal activity of the JCV late promoter, JCVL, in glial cells. In a reciprocal experiment, the JCV early protein, the large tumor antigen, stimulates expression from JCVL and HIV-1 long terminal repeat promoter in both glial and non-glial cells. This trans-activation occurs at the level of RNA synthesis, as measured by the rate of transcription, stability of the message, and translation. We conclude that the presence of the HIV-1-encoded tat protein may positively affect the JCV lytic cycle in glial cells by stimulating JCV gene expression. Our results suggest a mechanism for the relatively high incidence of PML in AIDS patients than in other immunosuppressive disorders. Furthermore, our findings indicate that the HIV-1 regulatory protein tat may stimulate other viral and perhaps cellular promoters, in addition to its own.
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PMID:Trans-activation of the JC virus late promoter by the tat protein of type 1 human immunodeficiency virus in glial cells. 215 52

Acute graft-vs-host disease occurring during the early weeks of life has been previously reported as a rare disease entity. We report a case of acute graft-vs-host disease in a female infant with an immunodeficiency that was thought to be secondary to intrauterine or neonatal cytomegalovirus infection or, less likely, to a severe combined immunodeficiency. The patient presented with a triad of failure to thrive, diarrhea, and maculopapular and petechial rash. The first clue to diagnosis was the skin biopsy finding of an epidermal lymphocytic infiltrate in association with individual necrotic keratinocytes. The diagnosis was confirmed at autopsy. In the absence of an obvious graft, the disease is believed to have been the result of maternofetal T-cell transfer in utero or at delivery.
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PMID:Acute graft-vs-host disease in an immunodeficient newborn possibly due to cytomegalovirus infection. 255 81

A case of high grade malignant lymphoma in a young woman with congenital disseminated lymphangiectasis, exudative enteropathy and immunodeficiency is reported. Lymphoid malignancies occur with a high frequency in the course of this rare disease, possibly as a consequence of immunodeficiency. In this case, a selective defect of the OKT4+ peripheral blood lymphocyte subset has been shown. The relationships between congenital lymphangiectasis, immunodeficiency and malignant lymphoma are discussed.
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PMID:[Non-Hodgkin lymphoma arising in a case of Waldmann's intestinal lymphangiectasis]. 408 May 38

A naturally occurring immunodeficiency syndrome has been seen in a captive colony of macaque monkeys. This syndrome is seen primarily in the species Macaca cyclopis. Affected animals died with lymphomas (a rare disease in macaques) or such opportunistic infections as Pneumocystis carinii and noma (necrotizing gingivitis). These M. cyclopis exhibited anemia, neutropenia, and a circulating bizarre immature monocyte. In addition, liver function tests suggested hepatitis. Pokeweed mitogen-, concanavalin A-, and xenogeneic cell-stimulated proliferative responses by lymphocytes of animals with the syndrome were dramatically diminished. The T4 (helper, inducer)/T8 (suppressor, cytotoxic) ratio in the peripheral blood mononuclear T-cell populations of M. cyclopis in this colony are decreased when compared with those from either Macaca mulatta in the same colony or normal humans. Epidemiologic evidence implicates a common source agent in this syndrome. The similarity of this syndrome in macaques to human acquired immunodeficiency syndrome suggests that it may provide an important model for studying the human syndrome.
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PMID:Acquired immunodeficiency syndrome in a colony of macaque monkeys. 622 43

Primary brain lymphoma (PBL) is a rare disease, the study of which is based on small series and case reports. The AA review new cases of PBL not associated to immunodeficiency at the Portuguese Institute of Oncology of Porto since 1978. Five male patients were found with lymphoma primarily located in the brain, with aggressive histology, IE staging, detected by CAT, NMR or brain scintigraphy and with histologic material collected by stereotaxic biopsy (3 cases) or by craniotomy (2 cases). Three patients were in complete remission (25,5 and 1 year) and 2 were dead with a survival of 12 and 17 months. The cases and literature are discussed.
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PMID:[Primary lymphomas of the brain not related to immunodeficiency]. 748 42

Immunodeficiency with hyperimmunoglobulinemia M is a rare disease characterized by very low levels of IgG and IgA and normal or high levels of serum IgM and IgD. Recurrent and severe systemic infections with pathogenic bacteria are frequent if immunoglobulin replacement therapy is not given. Histoplasmosis is a systemic granulomatous mycosis due to Histoplasma capsulatum and characterized by a particular affinity for the reticuloendothelial system. Glabrous skin involvement in histoplasmosis is highly unusual except in patients with advanced human immunodeficiency viral disease. Cutaneous histoplasmosis and granulomatous reaction were diagnosed in a 5-year-old boy with hyper-IgM disease. The lesion improved after oral ketoconazole therapy. To our knowledge, this is the first case of cutaneous histoplasmosis associated with hyper-IgM to be reported.
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PMID:Cutaneous histoplasmosis in a child with hyper-IgM. 750 54

Thrombotic thrombocytopenic purpura (TTP) is a rare disease and the epidemiologic features have been incompletely characterized. Because of the historically high case-fatality rate for TTP, we analyzed U.S. multiple cause-of-death mortality data with TTP listed on the death record for the period 1968-1991, in order to estimate the incidence of TTP, to characterize demographic features of the decedents, and to determine if trends in mortality correlate with findings from clinical studies showing improved survival in recent years. There were 4,523 TTP-associated deaths during the 24-year study period. The annual age-adjusted mortality rate decreased initially and reached its lowest point at 0.4 per 1,000,000 residents for the years 1970 through 1973, and then increased steadily to 1.1 during the last 4 years of the study period, 1988 through 1991. We estimate the current incidence of TTP to be approximately 3.7 cases per 1,000,000 residents. Deaths were rare below the age of 20 years, but the age-specific mortality rate for those 20 years and older increased steadily with increasing age. Regardless of age, females were affected more often than males, and the overall female-to-male age-adjusted rate ratio was 1.9 (95% confidence interval (CI), 1.8 to 2.0). The greatest age-specific difference was between females and males in their twenties (rate ratio 3.2; 95% CI, 2.6 to 3.9). The mortality rate for blacks, and especially black females, was higher than the mortality rate for whites (black-to-white age-adjusted rate ratio 3.4; 95% CI, 3.2 to 3.6; black female-to-white female age-adjusted rate ratio 3.6; 95% CI, 3.3 to 3.9), although the majority of deaths were among whites (71.5%). Infection with the human immunodeficiency virus (HIV) or an HIV-related diagnosis was reported in 61 (1.3%) decedents overall and in 51 (4.4%) decedents from 1988 through 1991. The TTP mortality rate has increased over time despite reports of significant improvement in survival associated with clinical use of plasma infusion and plasma exchange. This trend in mortality suggests that the incidence of TTP is increasing. Blacks, and black females in particular, are affected at a disproportionately high rate. The increased incidence of HIV infection and related disease may have contributed to some of the increase in TTP mortality in recent years, but it does not explain the majority of the increase, which began before the onset of the HIV epidemic.
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PMID:Increasing mortality from thrombotic thrombocytopenic purpura in the United States--analysis of national mortality data, 1968-1991. 757 5

The most important mycobacteria causing disease in humans are Mycobacterium tuberculosis and Mycobacterium leprae. These germs contrast the so-called atypical mycobacteria. The importance of the atypical mycobacteria was recognized in the fifties. Even if the quantity of atypical mycobacterial disease has increased during the last decades in Germany, it is still a rare disease today, but it is seen in patients with acquired immunodeficiency syndrome more often nowadays. In the period from 1st January 1986 til 31st December 1992 31 HIV-negative patients with a diagnosis of atypical mycobacterial disease have been seen in the department for lung diseases in the Thoraxklinik Heidelberg-Rohrbach. During the same period an atypical mycobacterial disease was diagnosed in 12 out of 413 HIV-positive patients (2.9%) of the AIDS-ambulance of the skin hospital of the University of Heidelberg. Most of the HIV-negative patients showed additional diseases which reduce the immunological resistance. In HIV-positive patients an atypical mycobacteriosis heralds a severe immunodeficiency. Because it is a rare disease and an exact diagnosis is difficult to establish there is a lack of controlled clinical trials and therefore detailed therapeutical guidelines do not exist. A therapeutical approach is also complicated by a lack of effective drugs. With disseminated disease in AIDS-patients, which is mostly caused by Mycobacterium avium-intracellulare, the therapy should be stopped, if there are any severe side-effects. The present results of therapy are still disappointing. In the future the management of atypical mycobacterial disease will be more important, because there is an increasing number of patients with acquired immunodeficiency.
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PMID:[Diagnosis, therapy and prognosis of atypical mycobacterial infections--results of a retrospective study]. 780 Jun 76

The number of tuberculosis (TB) cases reported in the United States has been on the decline for the last three decades. This trend has been dramatically reversed in the past few years, largely owing to the human immunodeficiency virus epidemic. Laryngeal TB, while well recognized in the adult population, is a rare disease in children. Only six cases have been described in the world literature since 1960. We describe three children with laryngeal TB who presented with stridor. One child required an emergency tracheotomy for control of the airway. The pathogenesis of laryngeal TB in children is postulated to differ from that in adults. In children primary infection of the larynx occurs, while in adults, laryngeal infection is secondary to pulmonary disease. All patients had triple anti-TB chemotherapy for 1 year. Laryngeal TB, although rare, may be seen more frequently in the near future and the diagnosis should always be considered.
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PMID:Laryngeal tuberculosis. A cause of stridor in children. 780 14


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