Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.5.4.4 (adenosine deaminase)
 5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Gastrointestinal tuberculosis and tuberculous peritonitis are still considered a rare disease in Japan. A high index of suspicion must be maintained to make an exact diagnosis. It also must be kept in mind that little evidence of active or healed tuberculosis is detectable on chest x-ray. The jejunoileum and ileocecum are most commonly affected in the gastrointestinal tuberculosis. Abdominal pain and abdominal tenderness are present in most patients. An abdominal mass is often palpable in the right lower quadrant. The most valuable diagnostic study is colonoscopy with biopsies. In tuberculous peritonitis, an abdominal swelling is the most common symptom. Laparoscopy with directed biopsy is an excellent study for diagnosis. The levels of ascites adenosine deaminase are also useful for diagnosis.
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PMID:[Intestinal tuberculosis and tuberculous peritonitis]. 988 20

Mycobacterium kansasii infection is a recognized complication of AIDS and a broad spectrum of extrapulmonary manifestations has been reported. However, AIDS-related M. kansasii pericarditis is an extremely rare disease. We report the first European case of this infection, that presented some different clinical findings to those previously described in HIV-infected individuals. M. kansasii pericarditis was the first AIDS-defining illness presented by the patient. The stained smears of pericardial fluid were negative for acid-fast bacilli and an increased level of adenosine deaminase was observed in pericardial fluid. A short course of prednisone therapy was added to antituberculous treatment, with a good clinical response.
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PMID:Mycobacterium kansasii pericarditis as a presentation of AIDS. 1126 60

We report a case of a 73-year-old man with tuberculous peritonitis. He had sought treatment at a clinic near his house for his fever and abdominal distension. Massive ascites were found and he was referred to our hospital. The endoscopy and abdominal CT scan performed on admission revealed no abnormal findings except the massive ascites. Mycobacterium tuberculosis (MT) DNA was detected in the ascitic fluid by polymerase chain reaction (PCR) and ascitic adenosine deaminase (ADA) activity was 127.6 U/l. He was diagnosed as tuberculous peritonitis and transferred to the Department of Respiratory Medicine. A chest CT scan showed predominant right pleural effusion with no other abnormal findings in bilateral lung fields. His sputum were all positive by smear acid-fast staining, MT DNA and culture on MT. His final diagnosis was tuberculous peritonitis, pulmonary tuberculosis, and tuberculous pleuritis. Treatment was started by anti-tuberculosis drugs with combined use of isoniazid, rifampicin, ethambutol, and pyrazinamide. The therapy was continued for 6 months. The culture for MT (Mycobacteria Growth Indicator Tube) converted to negative after 2 weeks of treatment and the C-reactive protein level became normal after a month. The pleural effusion and ascites disappeared after 2 and 3 months, respectively. Tuberculous peritonitis is a relatively rare disease, however when we encounter unexplained ascites, MT PCR and the measurement of ADA should be done considering a rapid diagnosis of tuberculous peritonitis, before invasive diagnostic laparoscopy.
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PMID:[A case of tuberculous peritonitis]. 1636 74

Severe combined immune deficiency disease due to a deficiency of the enzyme adenosine deaminase is a rare disease. However, it has been used as a prototype disease for the development of a variety of treatment modalities that are currently applied in more frequent diseases. For example, allogeneic bone marrow transplantation and stem cell gene therapy have been used for adenosine deaminase deficiency before being applied in other more frequent diseases. In the present paper, the development of bone marrow transplantation and stem cell gene therapy, as well as treatment with purified enzyme, for adenosine deaminase deficiency are discussed.
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PMID:Treatment of adenosine deaminase deficiency. 1802 May 47

Not long ago, primary tuberculosis was considered a rare disease; now with an increasing incidence worldwide, physicians should relearn many of its basic aspects and manifestations. Pericarditis is a rare finding seen with tuberculosis, but its prognosis is excellent with treatment, so early diagnosis is crucial. Pathogenesis is particularly important, and it must be taken in consideration when interpreting diagnostic tools. Herein we report on a healthy 32-year-old woman who presents with a 1-month history of febrile illness, malaise, and weakness; more recently, she also had resting dyspnea, which was progressively worsening. A positive PPD and an abnormal chest radiograph prompted hospitalization, where she was found to have pulsus paradoxus of 20 mm Hg. The echocardiogram showed diastolic right chamber collapse along with respiratory variation of the mitral inflow, consistent with pericardial tamponade. A pericardiocentesis was performed with resolution of her resting dyspnea; more than 1000 mL of serous fluid drained from the pericardial space over the following 24 hours. Although sputum and pericardial fluid cultures and smear for AFB and other organisms were negative, as well as a negative pericardial fluid PCR for Mycobacterium tuberculosis DNA; an elevated (44.4 U/L [normal, 0 to 18]) adenosine deaminase level in the pericardial fluid was consistent with the probable diagnosis of tuberculous pericardial effusion. The patient was treated with resolution of the clinical syndrome and no recurrence of the effusion thereafter. Adenosine deaminase, an enzyme marker of cell-mediated immune response activity to M tuberculosis that includes activated T-lymphocytes and macrophages, appears in pericardial fluid. The diagnosis of probable tuberculous effusion can be made without demonstration of mycobacterium.
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PMID:Adenosine deaminase in the diagnosis of tuberculous pericardial effusion. 1879 13

Hairy cell leukemia (HCL) was once considered an untreatable form of chronic lymphoid malignancy. Based upon the recognition of the importance of adenosine deaminase to the normal B cell survival and proliferation, a hypothesis was developed that temporary inhibition of this enzyme might be therapeutically successful in treating chronic B cell leukemias. Pentostatin was initially explored in patients with refractory chronic lymphocytic leukemia (CLL). Both pentostatin and cladribine, purine nucleoside analogs, have been utilized to successfully treat HCL. The high degree of complete and durable remission observed with either agent resulted in many believing that the treatment of this rare disease had been fully optimized. However, a considerable number of patients will relapse. While tremendous progress has been made in initial management, the issues related to optimal therapy, timing of initiation of treatment, and discovery of novel agents that may be effective in those who have relapsed are important. Investigational agents currently being explored in chronic lymphocytic leukemia may also have benefit for those patients who have relapsed or are resistant to therapy of hairy cell leukemia. Many important questions remain (e.g. importance of minimal residual disease) and will require international collaboration to fully address these unanswered questions. The Hairy Cell Leukemia Consortium was established to address these unanswered questions.
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PMID:Hairy cell leukemia: a successful model for experimental therapeutics--pentostatin and new ideas. 2159 4