Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004364 (autoimmune disease)
 24,845 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To understand the characteristics of T cell receptors recognizing antiphospholipid syndrome associated antigen, the characteristics of T cells were analyzed using T cell receptor beta variable region (TCRbetaV) gene spectrotyping in a case of antiphospholipid syndrome (APS). The results indicated that in the case of APS there were 2 dominant T cell clones. The TCRbetaVs sequences of the 2 T cell clones showed the TCRbetaVs belonged to 8 and 23 gene families respectively. The peptides of third complementarity-determining regions (CDR3) in the TCRbetaVs were CASSLLVAGGPRAYNEQFFGPG and CASSLAGFGQPQHFGDG. Comparing the motifs in CDR3 with another autoimmune disease, the motif YNEQFFGPG in TCRbetaV8 and motif QHFGDG in TCRbetaV23 were identical with that of idiopathic thrombocytopenic purpura and systemic lupus erythematosus reported before. In conclusion, some T cell clones proliferating in these autoimmune diseases may recognize the same antigens.
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PMID:[Characteristics of T cell receptors recognizing antiphospholipid syndrome associated antigens]. 1720 84

The antiphospholipid syndrome (APS) is an autoimmune disorder, characterized by a wide spectrum of clinical manifestations. Thromboembolic events, with a greater involvement of extremities veins, are the most common features, and obstruction of abdominal vessels are sporadically reported. We present a singular case of a patient with primary APS (PAPS) that developed a spontaneous splenorenal shunt, secondary to a total portal, mesenteric and splenic vein thrombosis. Spontaneous splenorenal shunt, an uncommon circumstance reported in cirrhotic disease, to the best of our knowledge, has not been previously described in PAPS.
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PMID:Spontaneous splenorenal shunt in a patient with antiphospholipid syndrome: the first case reported. 1728 87

The antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the clinical association of antiphospholipid autoantibodies (aPL) with a syndrome of hypercoagulability that can affect any blood vessel, irrespective of type or size. Involvement of larger vessels, such as arteries or veins, manifests in the form of thrombosis or embolism, whereas involvement of smaller vessels, including capillaries, arterioles, and venules, manifests as thrombotic microangiopathy. Virtually any organ in the body, including the kidney, can be affected. Here, we review the basic principles and recent advances in our understanding of APS, and discuss the broad spectrum of renal diseases that have been observed in association with this syndrome. We also discuss the impact that APS may have on pre-existing renal disease as well as current recommendations for treatment of APS.
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PMID:The antiphospholipid syndrome. 1733 87

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent vascular thrombosis and loss of pregnancy in association with the presence of antiphospholipid antibodies (APA) detectable as lupus anticoagulants, anticardiolipin antibodies or anti-beta2 glycoprotein I antibodies. The pathophysiological importance of APA in APS is accepted, however, the mechanisms leading to thrombosis are likely to be multifactorial and are so far unclear. Without a prior thrombosis, the risk of developing a new thrombosis in healthy patients with APA is slightly increased (<1% per year). However, the risk of a recurrent thrombosis increases considerably (>10% per year) in patients with a history of thrombosis without anticoagulation. The careful and correct identification of patients with APS is important because prophylactic anticoagulation can reduce the risk of recurrent thrombotic events, and during pregnancy can improve fetal and maternal outcome.
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PMID:[Antiphospholipid syndrome 2007. Current aspects of laboratory diagnostics and their therapeutic consequences]. 1735 62

The antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the occurrence of arterial and/or venous thromboembolic events and obstetric complications in the setting of circulating antiphospholipid antibodies. Dermatologic manifestations are commonly seen in APS with almost half of the patients exhibiting varied conditions such as ulceration, splinter hemorrhages, and livedo reticularis. In this paper, we report the case of a 12-year-old boy who was diagnosed with APS after presenting with livedo reticularis and positive antiphospholipid antibodies. We discuss the difficulty of diagnosing APS in patients presenting solely with dermatologic complaints, as these skin manifestations are not specific enough for APS to be included in the Sapporo diagnostic criteria. Proposed revisions to the Sapporo criteria to increase its specificity and sensitivity are also addressed.
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PMID:Criteria for the diagnosis of antiphospholipid syndrome in patients presenting with dermatologic symptoms. 1822 36

Antiphospholipid syndrome (APS) is a systemic autoimmune disease associated with arterial and venous thrombotic events and recurrent fetal loss. Cardiac manifestations in APS primarily include accelerated atherosclerosis leading to cardiovascular disease. There is increased cardiovascular mortality in APS. Cardiovascular risk is even higher in secondary APS in lupus patients. Several traditional and disease-related, autoimmune-inflammatory risk factors are involved in APS-associated atherosclerosis and its clinical manifestations. Antiphospholipid antibodies (APA), lupus anticoagulant, anti-oxLDL and other antibodies have been implicated in vascular events underlying APS. The primary and secondary prevention of atherosclerosis and CAD in these diseases includes drug treatment, such as the use of statins and aspirin, as well as lifestyle modifications. Apart from atherosclerosis and CVD, other cardiac manifestations may also be present in these patients. Among these conditions, valvular disease including thickening and vegetations is the most common. APA are involved in the pathogenesis of Libman-Sacks endocarditis usually associated with SLE. In addition, ventricular dysfunction, intracardiac thrombi and myxomas, pulmonary hypertension may also exist in APS patients. Early diagnosis of APS, thorough examination of the heart, control of traditional risk factors by lifestyle modifications and pharmacotherapy, probably anti-inflammatory treatment, and close follow-up of APS patients may help to minimize cardiovascular risk in these individuals.
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PMID:Cardiac manifestations in antiphospholipid syndrome. 1753 84

Systemic Lupus Erythematosus (SLE) is a rheumatic autoimmune disease characterized by multisystemic involvement with a variable prognosis. The association with Antiphospholipid Syndrome (APS) occurs in about 36% of the patients, raising additional problems with treatment and monitoring of these patients. The authors report a clinical case of a girl with SLE and APS who represented Budd-Chiari Syndrome and severe thrombocytopenia. The patient had severe thrombotic event and simultaneously a high hemorrhagic risk due to thrombocytopenia. Long-term resolution of the thrombocytopenia was achieved with mycophenolate mofetil. Long-term anticoagulation for thrombosis prophylaxis is required.
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PMID:[Budd-Chiari syndrome and severe thrombocytopenia in a patient with Systemic Lupus Erythematosus and Secondary Antiphospholipid Syndrome]. 1757 98

The objective of this study was to analyse whether primary antiphospholipid syndrome (PAPS) may precede and modify the characteristics of systemic lupus erythematosus (SLE). Out of the total 362 SLE patients in our service, 223 patients had antiphospholipid antibodies (aPL), of whom 110 met the criteria of antiphospholipid syndrome. In 26 cases (7.2%) PAPS appeared 5.5 years before the onset of lupus (PAPS+SLE Group). Their clinical findings were compared to lupus patients without (SLE only Group, n = 26) and with secondary APS (SLE+SAPS Group, n = 26). The prevalence of deep venous thrombosis, stroke/TIA, recurrent fetal loss, coronary heart disease and myocardial infarction was significantly higher in PAPS+SLE Group as compared to SLE only Group. The difference in prevalence of fetal loss (P = 0.014) between PAPS+SLE and SLE+SAPS Groups was also recorded. On comparison to PAPS+SLE Group, patients without APS (SLE only Group) were younger at onset of lupus, with more frequent flares and a higher prevalence of WHO type III/IV nephritis (P = 0.007), requiring higher doses of cyclophosphamide and corticosteroids. Lupus started in the form of PAPS in 7.2% of our SLE patients, who presented with more thrombotic and less inflammatory complications than in SLE patients without a prior or with a following secondary APS. Considering the long latency between the two diseases, PAPS may be a forerunner of lupus, but it may also coexist with SLE as an independent autoimmune disorder.
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PMID:Primary antiphospholipid syndrome as the forerunner of systemic lupus erythematosus. 1757 33

The antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterised by autoantibody production and vascular thrombosis or pregnancy morbidity. Autoantibodies generated against phospholipid and phospholipid-binding proteins often impair phospholipid-dependent clotting assays (lupus anticoagulants). These autoantibodies activate endothelial cells, platelets and biochemical cascades and can exist in autoimmune disorders such as lupus. Consistently positive antibodies may worsen the severity of thrombo-occlusive disease. The most common neurological manifestations of APS include stroke and transient ischaemic attacks due to arterial thromboses. Antiphospholipid antibodies may cause additional neurological impairments through both vascular and immune mechanisms. Antiaggregant or anticoagulant therapies are indicated for APS-related ischaemic strokes. Treatment regimens for asymptomatic antibody-positive patients and those with refractory disease remain controversial. There is scant literature on neurological APS manifestations in paediatric patients. Assessment of traditional cardiovascular and inherited thrombophilia risk factors is essential in patients with APS. Modifiable risk factors and valvular heart disease may worsen thrombotic and cerebrovascular outcomes. Alternative therapies such as statins, anti-malarials, angiotensin-converting enzyme inhibitors and thrombin inhibitors warrant further research.
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PMID:Neurological manifestations of the antiphospholipid syndrome: risk assessments and evidence-based medicine. 1759 87

Antiphospholipid syndrome, also known as Hughes syndrome, is a recently described entity that mimics symptoms of other diseases such as multiple sclerosis. It is a potentially life-threatening autoimmune disorder where the body produces antibodies directed against phospholipids and phospholipid-binding proteins. Herein a patient with successive ocular vascular events associated with antiphospholipid syndrome is presented.
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PMID:Hughes syndrome. 1765 Dec 60


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