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)

Hypergammaglobulinemic purpura is a rare disease in children. We report a case of a 12 year-old girl with a history of frequent infections. We found the presence of IgG2 deficiency despite polyclonal hypergammaglobulinemia. An IgG subclass determination should be obtained in every child with polyclonal hypergammaglobulinemia and features of immunodeficiency.
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PMID:Primary hypergammaglobulinemic purpura associated with IgG2 deficiency. A case report. 857 50

The syndrome defined as "idiopathic CD4 lymphocytopenia' (ICL) is a rare disease of unknown aetiology, often associated with severe depression of immune defences and the occurrence of opportunistic infections. A case is reported wherein a severe immunodeficiency syndrome with persistent idiopathic CD4+ lymphopenia developed in a woman suffering from systemic microscopic polyarteritis; no signs of HIV 1/2 or HTLV I/II infection were evident. The patient died of widespread opportunistic infections. The association of ICL with vasculitis has never been reported until now. A link between the two diseases cannot be ruled out.
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PMID:Idiopathic CD4+ lymphocytopenia and systemic vasculitis. 870 90

We report the case of a boy with neuronal intranuclear inclusion disease in whom the diagnosis was made by examination of a rectal biopsy specimen. Intranuclear inclusions were observed in the Auerbach and Meissner plexuses. In an attempt to understand the physiopathology of this very rare disease, we performed polymerase chain reaction (PCR) and reverse transcriptase-PCR analysis for viral nucleic acids of human immunodeficiency virus type 1 (HIV-1), HIV-2, human cytomegalovirus and measles virus. No viral nucleic acids were detected in the biopsy specimen.
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PMID:Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. 878 58

Progressive multifocal leukoencephalopathy, a formerly rare disease that chiefly occurred in persons with underlying lymphoma and chronic lymphocytic leukemia, is now seen with increasing frequency in the era of acquired immunodeficiency syndrome. Progressive multifocal leukoencephalopathy is currently estimated to arise in 5% of all human immunodeficiency virus-infected individuals. The clinical features of the disorder in patients with acquired immunodeficiency syndrome do not appear to be significantly different from progressive multifocal leukoencephalopathy occurring in association with other immunosuppressive disorders. Radiographically, the appearance of HIV dementia on magnetic resonance imaging is sometimes confused with that of progressive multifocal leukoencephalopathy. Among the characteristics that are helpful in distinguishing between the two disorders are the presence of focal findings, the rate of disease progression, the specific magnetic resonance imaging attributes, including the location of the lesions, and certain cerebrospinal fluid parameters, including surrogate markers for human immunodeficiency virus dementia and the presence of myelin basic protein. The remarkable increase in the burden of progressive multifocal leukoencephalopathy has provided a vital impetus for its study, particularly with respect to diagnosis and therapy. Establishing an unequivocal diagnosis of progressive multifocal leukoencephalopathy currently requires brain biopsy. The application of polymerase chain reaction for JC virus amplification to cerebrospinal fluid samples suggests that it may provide an alternative means of diagnosis. Recent in vitro studies of cytosine arabinoside and camptothecin suggest that they, or similar agents, may prove useful in the treatment of this illness and well-designed clinical trials are underway.
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PMID:Progressive multifocal leukoencephalopathy: the evolution of a disease once considered rare. 922 38

1. This manuscript describes two different strategies to progress from the clinical assessment of patients to the identification of disease-causing mutations. In the first disease, recognition of a metabolic abnormality allowed direct molecular analysis of the causal gene. In contrast, localization of the second disease gene by linkage analysis was critical to implicate a gene with a previously unsuspected disease role. 2. Two sisters with chronic respiratory disease and recurrent infections were identified as the first cases of adult onset immunodeficiency due to adenosine deaminase deficiency. Autosomal recessive inheritance of two mutations in the adenosine deaminase gene was demonstrated. Enzyme replacement therapy improved the patients' immunological and clinical status. 3. Individuals with pulmonary arteriovenous malformations were used to identify families with hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber Syndrome). Linkage studies mapped the HHT disease gene in some families to chromosome 9, and demonstrated genetic heterogeneity. The chromosome 9 disease interval was refined, and several candidate genes were assessed. Following the first description of disease-segregating mutations, a complete analysis of the endoglin gene (which encodes an endothelial cell transforming growth factor-beta receptor) identified seven novel mutations. Two mutations did not produce mutant mRNA, and disease severity was comparable between families, indicating that HHT results from stoichiometric insufficiency of endoglin. 4. Each study has implications extending beyond the relatively rare disease analysed. The adenosine-deaminase-deficient patients highlight a treatable cause of HIV-negative CD4+ lymphopenia in adults, perhaps accounting for further cases of 'non-HIV AIDS'. The HHT studies have illuminated a novel area of vascular pathophysiology, with potential relevance to further disease states.
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PMID:Glaxo/MRS Young Investigator Medal. Molecular studies on adenosine deaminase deficiency and hereditary haemorrhagic telangiectasia. 961 53

Between 1980 and 1993, 26 patients were treated for primary lymphoma in the central nervous system at the Norwegian Radium Hospital. This is a rare disease with poor prognosis and thus represents a great therapeutic challenge. Immunocompromised, e.g. AIDS patients, are a group at high risk, but the incidence has increased among immunocompetent patients as well. Median patient age was 64 years; and none of the patients had any signs of immunodeficiency. 23 of the patients received radiation therapy. 13 of the patients received some form of chemotherapy. The overall median survival was 19 months. WHO performance status 0-2, unifocal lesion, absence of steroid dependency and normal serum levels of LDH were all associated with longer survival. Although complete remissions were achieved in most patients, relapses in the central nervous system were frequent.
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PMID:[Primary non-Hodgkin's lymphoma of the brain]. 988 38

Intramedullary spinal tuberculosis infection remains an extremely rare disease entity. In the most recent reviews only 148 cases have been reported in the world literature, although numerous recent reports from developing countries and on human immunodeficiency virus (HIV)-positive patients have increased this number. The authors present an unusual case of intramedullary tuberculoma in an HIV-negative patient from the southern United States who demonstrated no other signs or symptoms of tuberculosis infection. The authors believe that this is the first case of its kind to be presented in recent literature. The presentation of miliary disease via an isolated intramedullary spinal mass in a patient with no evident risk factors for tuberculosis infection emphasizes the importance of including tuberculosis in the differential diagnosis of spinal cord masses.
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PMID:Intramedullary tuberculoma of the spinal cord. Case report and review of the literature. 1061 73

Erythema elevatum diutinum (EED) is a chronic cutaneous leukocytoclastic vasculitis. This rare disease is characterized by red, brownish-purple, and yellow papules, plaques, and nodules distributed symmetrically about the extremities. There have been recent reports of the disease in association with infection with the human immunodeficiency virus (HIV). We describe the case of a 51-year-old man with HIV who presented with EED, which was successfully treated with dapsone.
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PMID:Erythema elevatum diutinum in a patient with human immunodeficiency virus. 1148 Jan 46

Lung nocardiosis is a rare disease affecting patients with lymphoreticular neoplasm, immunodeficiency or chronic obstructive pulmonary disease; it can also affect patients who have received transplants. We report a case of lung nocardiosis in which radiographic presentation was acute, with a pattern of multiple bilateral pulmonary nodules ("cannonballs"), requiring us to rule out metastatic disease to arrive at a diagnosis. The patient responded slowly to antibiotic treatment until full resolution.
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PMID:[Pulmonary nocardiosis as a cause of radiographic imaging of multiple pulmonary nodules]. 1173 42

Disseminated acanthamebiasis is a rare disease that occurs predominantly in patients with human immunodeficiency virus (HIV) infection or acquired immunodeficiency syndrome but also in immunosuppressed transplant recipients. Few reports have focused on non-HIV-infected patients, in whom the disease is more likely to go unsuspected and undiagnosed before death. We describe a renal transplant recipient with Acanthamoeba infection and review the literature. The patient presented with osteomyelitis and widespread cutaneous lesions. No causative organism was identified before death, despite multiple biopsies with detailed histological analysis and culture. Disseminated Acanthamoeba infection was diagnosed after death, when cysts were observed in histological examination of sections of skin from autopsy, and trophozoites were found in retrospectively reviewed skin biopsy and surgical bone specimens. In any immunosuppressed patient, skin and/or bone lesions that fail to show improvement with broad-spectrum antibiotic therapy should raise the suspicion for disseminated acanthamebiasis. Early recognition and treatment may improve clinical outcomes.
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PMID:Disseminated acanthamebiasis in a renal transplant recipient with osteomyelitis and cutaneous lesions: case report and literature review. 1217 48


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