High frequency of t(14;18) translocation in Sjögren's syndrome: comment on the article by Gellrich et al.
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Chromosomes, Human, Pair 14↗
Biomedical subjects
M Zeher
Publications and source records attributed to M Zeher.
Frequency and evaluation of t(14;18) translocation in Sjögren's syndrome.
In most cases of follicular lymphoma, t(14;18) chromosomal translocation can be detected in lymphocytes of peripheral blood and bone marrow. Nevertheless, certain other types of diseases can also be characterised by the presence of the translocation. Patients of Sjogren's syndrome have an increased frequency of developing non-Hodgkin's lymphoma, e.g. follicular lymphoma; in turn, they may have translocation-bearing cells. One hundred Sjögren's syndrome patients were screened using a nested polymerase chain reaction technique to identify whether they had the translocation in their peripheral blood lymphocytes. Five percent of that population revealed a temporary or long-lasting presence of the translocation, sometimes even in the lymphocytes from bone marrow. Our results indicate that in addition to the conventional diagnostic methods of lymphoma, there are certain other factors, e.g. the duration of the presence of t(14; 18) translocation and the source of lymphocytes, that should be considered for successful early diagnoses and perhaps for treatment of the lymphoma in the Sjögren's patients.
Base Sequence↗
Hypercoagulability in various autoimmune diseases: no association with factor V Leiden mutation.
The coagulation factor V Leiden mutation, leading to resistance to activated protein C (APC), is the most common inherited risk factor for venous thrombosis. In various systemic autoimmune diseases the hypercoagulable state was shown to be associated with the presence of antiphospholipid antibodies (aPL). Our aim was to determine the prevalence of both, Leiden mutation and aPL in autoimmune diseases and their impact on the occurrence of venous thrombosis. The dataset consists of results from 137 patients having Sjögren's syndrome (n = 50), progressive systemic sclerosis (n = 43) (PSS), undifferentiated connective tissue disease (n = 24) (UCTD) and mixed connective tissue disease (n = 20) (MCTD) with or without venous thromboembolic complications. The Leiden mutation was detected with polymerase chain reaction (PCR), aPL, such as lupus anticoagulant (LA) with screening and confirmatory procedures and others with enzyme linked immunosorbent assay (ELISA). The prevalence of mutation ranged between 8.3% and 18.0% (13.1%). The thromboembolic risk was found to be increased in the presence of aPL. Eight patients (5.84%) (4 heterozygous) experienced thromboembolic events and 3 out of 4 heterozygous showed aPL positivity, too. There were no difference between the frequencies of Leiden mutation in examined systemic autoimmune diseases and unselected populations.
Activated Protein C Resistance↗
Diagnostic value of the detection of t(14;18) chromosome translocation in malignant hematological and immunopathological diseases using polymerase chain reaction.
The majority of the t(14;18) chromosome translocations that occur in non-Hodgkin centroblastic-centrocytic follicular lymphoma can be detected by various methods. During the translocation process the bcl-2 gene located on chromosome 18 (18q21) is translocated to the JH region of the immunoglobulin gene of chromosome 14 (14q32). The most frequent type of bcl-2 translocations is the mbr type, whereas the immunoglobulin gene breaks mainly at the JH1-6 exons. About one of the 10(5) cells bearing the translocation can already be detected by using nested polymerase chain reaction (PCR). Eight patients suffering from follicular lymphoma were included in this study, which considered the usefulness of the PCR method. The results are in good agreement with those obtained by conventional diagnostic methods. Translocation can be detected, however, in patients with non-malignant diseases such as Sjögren's syndrome (about 5% of the patients) and in a patient with Whipple disease. In addition, translocation was detected in lymphocytes of peripheral blood of a healthy donor. Since lymphomas are detected in patients with Sjögren's syndrome with a relative high frequency, an early diagnosis of the translocation could improve the treatment of the disease. Nevertheless, a diagnosis of lymphoma is valid only in cases of bone marrow translocation-positivity.
Aged↗
Comparison of the anti-Ro/SSA autoantibody profile between patients with primary and secondary Sjögren's syndrome.
OBJECTIVE: To measure serum levels of anti-Ro52-kD/SSA, anti-Ro60-kD/SSA and anti-La/SSB autoantibodies in patients with primary and secondary Sjögren's syndrome. To examine if there is any connection between the disease and the subtype-spectrum of these antibodies. METHODS: We measured serum levels of anti-Ro52-kD/SSA, anti-Ro60-kD/SSA and anti-La/SSB autoantibodies by ELISA, in the sera of patients with primary Sjögren's syndrome with or without extraglandular manifestations and with or without anti-La/SSB positivity and of patients with systemic lupus erythematosus/Sjögren's syndrome overlapping disease with or without anti-La/SSB positivity. RESULTS: Differences of the distribution of the anti-Ro52-kD/SSA and the anti-Ro60-kD/SSA were found between the primary and secondary Sjögren's syndrome patients' groups; when Sjögren's syndrome is accompanied by systemic lupus erythematosus, the occurrence of anti-Ro60-kD/SSA autoantibodies is significantly higher than in primary Sjögren'syndrome. CONCLUSION: Our results suggest that there is a possible connection between the distribution of the subtypes of the anti-Ro/SSA autoantibodies and the disease type in primary/secondary Sjögren's syndrome.
Antibodies, Antinuclear↗
Antiprothrombin and antiannexin V antibodies imply risk of thrombosis in patients with systemic autoimmune diseases.
OBJECTIVE: To investigate the relationship between antiprothrombin (aPT) and antiannexin V (aANX) autoantibodies of IgG isotype and thrombosis in patients with systemic autoimmune diseases. To compare the clinical relevance of these antibodies to that of anticardiolipin (aCL), anti-beta2-glycoprotein I antibodies (anti-beta2-GPI), and lupus anticoagulant (LAC). METHODS: Serum IgG aPT, aANX, aCL, and anti-beta2-GPI levels were measured by solid phase enzyme immunoassay in the sera of 70 patients with systemic autoimmune diseases, 35 with antiphospholipid syndrome (APS) and 35 without APS. Medical records were analyzed, and associations of the antibodies with clinical features of APS were assessed. RESULTS: Patients with APS had higher frequency of aPT (p = 0.001) and aANX (p = 0.002) compared to patients without APS. Thrombotic events occurred more frequently in those with aPT or aANX than those without (p = 0.005, p = 0.006, respectively). The presence of aPT and aANX was found to be highly specific for APS. CONCLUSION: Measurement of aPT and aANX antibodies may be of value in confirming the diagnosis of APS, and in evaluating risk of venous and arterial thrombosis in patients with systemic autoimmune diseases.
Adult↗
Case series: coexistence of Sjögren's syndrome and sarcoidosis.
OBJECTIVE: To present cases of coexisting sarcoidosis and Sjogren's syndrome (SS). METHODS: We analyzed the clinical data of our 464 patients with SS with a clinical picture suggesting coexisting SS and sarcoidosis. We followed them for several years. RESULTS: We found 5 patients with coexisting SS and sarcoidosis. In 3 patients, pure sarcoidosis could mimic SS. CONCLUSION: In our experience, the frequency of sarcoidosis in SS is much higher than in the general population. One of the European criteria is that before the diagnosis of SS is made, the presence of sarcoidosis must be excluded. From our experience of 5 cases we determined that the 2 diseases can coexist, which indicates the value of these criteria.
Adult↗
[Adult onset Still disease: comment on two cases].
The adult onset Still disease is a systemic disease of an unknown etiology. As a separate entity, it was described firstly in 1971. The diagnosis is problematic and based upon special criteria. In this study, we present the cases of two patients with adult onset Still's disease, causing several serious differential-diagnostic problems. In the beginning of the disease a high, remittent-intermittent fever was present which reacted well to salycilates. Almost simultaneously, a characteristic, confluent, no itching rash appeared on the trunk and limbs. Pain of little joints of the hands was an early symptom of the disease in both of the cases. Before the final diagnosis, the possibility of any infectious diseases, haematologic malignancies or other autoimmune disease had to be excluded. The aim of this work was to show an overall, up-to-date picture of the disease based on two typical cases.
Adult↗
[Sweet syndrome following therapeutic use of granulocyte colony stimulating factor].
Sweet's syndrome is an acute febrile neutrophilic dermatosis. Classical form occurs after infection of the gastrointestinal or respiratory tract. This syndrome is often associated with myeloproliferative disorders and solid tumors. Some cases are reported in the literature in which usage of granulocyte colony-stimulating factor induced the symptoms of Sweet's syndrome. We report the case of an 53-year-old woman with hyperthyreosis. She wasn't euthyreoid in spite of medicaments since 1994, so her doctors planned operation. In the preoperative period her peripheral blood revealed agranulcytosis and she has got fever. 2 days after administration of granulocyte colony-stimulating factor erythematous plaques appeared on her face, neck and extremities. Biopsy from these plaques showed dermal neutrophilia, so a diagnosis of neutrophilic dermatosis was made. After the administration of corticosteroids, immunglobulin and antibiotics the skin lesions were resolved. She was examined because of suspicion of autoimmune diseases but we couldn't find any of them. Retrospectively, appearance of Sweet's syndrome was associated with granulocyte colony-stimulating factor. The case of this woman is important because usage of colony-stimulating factors is widespread and the Sweet's syndrome could be occurs as side effect of these drugs.
Adrenal Cortex Hormones↗
Correlation of increased susceptibility to apoptosis of CD4+ T cells with lymphocyte activation and activity of disease in patients with primary Sjögren's syndrome.
OBJECTIVE: To investigate whether a change in the CD95-related apoptosis of T lymphocytes might have a share in the development of the disease in patients with primary Sjögren's syndrome (SS). METHODS: Two-color cytometric analysis was used to study the phenotype of freshly separated mononuclear cells, while Western blotting was used to detect CD95 ligand (CD95L) expression in total homogenates of isolated CD4+ T lymphocytes. The ability of various subpopulations of T cells to undergo apoptosis was investigated in 1-day cultures in medium alone or following various (anti-CD3, anti-CD95 monoclonal antibody, calcium ionophore) treatments. Apoptosis was detected using 7-aminoactinomycin D dye. RESULTS: Compared with the findings in healthy controls, the number of CD4+ T lymphocytes was decreased, while their expression of CD95, HLA-DR, and CD45RO was significantly increased in patients with primary SS. A positive correlation was found between the activity of disease, the decrease in the CD4+ T cell number, and the increase in the expression of CD95, CD95L, HLA-DR, and CD45RO molecules within the CD4+ T cell subset. An increased rate of spontaneous, anti-CD3-, or anti-CD95-induced apoptosis was found in the T cells of SS patients, and this was more pronounced in the CD4+ T cell population, correlated with the decreased CD4+ T cell number, increased CD45RO expression, and activity of disease, and concerned mainly the CD95+ cells. CONCLUSION: These observations indicate that the increased susceptibility to apoptosis of peripheral CD4+ T cells from SS patients correlates with disease activity. These findings support the hypothesis that the chronic activation of the immune system that occurs in this autoimmune disease is the primary mechanism responsible for this cell-deletion process.
Adult↗
Isotype distribution and clinical relevance of anti-beta2-glycoprotein I (beta2-GPI) antibodies: importance of IgA isotype.
The aim of this study was to evaluate the prevalence of IgG, IgA and IgM anti-beta2-GPI antibodies in anti-phospholipid syndrome (APS), and to establish the clinical significance of IgA type antibodies compared with the other isotypes. Anti-beta2-GPI antibodies were measured in the sera of 70 patients by solid-phase enzyme immunoassay in gamma-irradiated polystyrene plates coated with human purified beta2-GPI. Thirty-three out of the 70 patients were classified as having APS: three of them had primary, and 30 had secondary APS related to systemic lupus erythematosus (SLE). The remaining 37 patients had SLE without APS. Anti-beta2-GPI antibodies of IgG, IgA and IgM isotypes were present in 84.8%, 59.3% and 51.5% of patients with APS. Both the frequency and the level of each isotype were significantly higher in patients with APS. This association was very strong for IgA (P = 0.0004 for the antibody frequency and P < 0.0001 for the antibody level), as well as for IgG type antibodies (P < 0.0001 and P < 0.0001), whereas it was weaker for IgM (P = 0.01 and P = 0.04). A strong relationship was demonstrated between increased IgA anti-beta2-GPI antibody levels and a history of venous thrombosis, thrombocytopenia, heart valve disease, livedo reticularis and epilepsy. IgG anti-beta2-GPI antibodies were associated with the presence of lupus anticoagulant (LA) in addition to the main features of APS. However, antibodies of IgM isotype were related only to thrombocytopenia and heart valve disease. We recommend the evaluation of anti-beta2-GPI antibodies of IgA isotype in addition to IgG in patients with clinical suspicion of APS.
Antiphospholipid Syndrome↗
[The presence of t(14;18) chromosome translocation in various types of diseases].
Chromosome translocation of t(14;18) can be detected in most cases of centroblastic/centrocytic follicular lymphomas. They are causative factors of lymphomas but the translocation is present in different other types of diseases although the translocation does not belong to the features of these illnesses. Our present work shows the appearance of t(14;18) translocation in lymphocytes of two patients of Sjögren's syndrome, one that of Whipple disease as well as one of healthy donors' lymphocytes using polymerase chain reaction technique presented in one of our previous publication. The translocation occurred in the mbr of bcl-2 gene in all cases showed and the bcl-2 gene was coupled with the immunoglobulin heavy chain gene. These results are definitively positive concerning the fact of translocation as it has been proved by sequencing of the amplification products showed in our earlier and present paper. Because relatively high percentages of Sjögren's syndrome patients develop later on lymphoma, the early detection of the translocation could result in a more successful diagnosis as well as treatment of the disease. The question arises, however, what role the translocation plays in illnesses such as the Whipple disease or what kind of consequences can be drawn from the appearance of the t(14;18) translocation in lymphocytes of healthy donors.
Chromosomes, Human, Pair 14↗
Expression of apoptosis-related Fas antigen and in vitro apoptosis of lymphocyte subsets from patients with primary Sjögren's syndrome: comment on the article by Lorenz et al.
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Apoptosis↗
[Use of hydroxy-propyl-methyl cellulose (methocel) and carboxy-methyl cellulose containing artificial saliva in the symptomatic treatment of xerostomia].
Salivary gland hypofunction is a common sequela of Sjögren's syndrome and irradiation treatment of tumors in head and neck region. The aim of the present study was to evaluate the therapeutic effect of a recently developed hydroxy-propyl-methyl-cellulose (HPMC) containing artificial saliva and to compare it with that of the carboxy-methyl-cellulose (CMC) based saliva substitute. The therapeutic effects of both preparations were assessed by means of self-administered questionnaires which had to be completed before and after the use of each type of artificial saliva after one week treatment. We found significant improvement in symptoms of nocturnal discomfort and difficulty in speech, and results were better in case of HPMC based artificial saliva. The retention time in oral cavity and the frequency of daily administration also were better in case of HPMC containing preparation. It is concluded that the use of HPMC containing artificial saliva can be recommended in the treatment of salivary hypofunction.
Aged↗
[Simultaneous occurrence of lupus anticoagulant and acquired "storage pool" disease of thrombocytes].
The authors describe the case of a female patient with a history of simultaneous abortion and deep vein thrombosis as well as moderate bleeding disturbances. Investigations revealed the presence of lupus anticoagulant while a thrombocyte "storage pool" disease was confirmed. This case demonstrates the association of these two haemostatic disturbances, and points to a possible relationship between them. Since detailed analyses failed to demonstrate the presence of antiplatelet antibodies, the authors suggest a possible damaging effect of lupus anticoagulant to the endothelium leading to thrombocyte activation.
Abortion, Spontaneous↗
Fibrinolysis-resistant fibrin deposits in minor labial salivary glands of patients with Sjögren's syndrome.
Minor labial salivary glands obtained at biopsy from 12 patients with Sjögren's syndrome were investigated by immunomorphological methods for the presence of fibrinolysis-resistant fibrin deposition. Fibrin could be found in extracellular localization between individual inflammatory cells infiltrating minor salivary glands. In the areas surrounding mononuclear infiltrations the labeling for fibrin showed an essentially fibrillar pattern. Staining for factor XIII A was observed over fibrin deposits and in large, stellate cells not showing reaction for fibrin. Here it is demonstrated that factor XIII A+ tissue macrophages are in an intimate relationship with fibrin deposits. The authors suggest that tissue macrophages may play a regulatory role in fibrin accumulation in association with autoimmune inflammation and consequently in demarcation of the inflamed tissue.
Adult↗
Analysis of the oral manifestations of systemic sclerosis.
The oral signs and symptoms in 32 patients with systemic sclerosis were evaluated. Oral mucosal telangiectasia was present in 18 cases (56.3%) and was not restricted to the limited form of systemic sclerosis. The interincisal distance was significantly decreased in the patients with systemic sclerosis compared with the 17 controls (p < 0.001). The distance between the vermillion borders was also significantly decreased when the 14 patients with salivary hypofunction were compared with the 18 cases without decreased salivary secretion (p < 0.05). Twenty-two (69%) of the patients exhibited keratoconjunctivitis sicca, salivary hypofunction, or both. Lip biopsy was performed in 16 cases. Two cases with inflammatory signs characteristic of Sjögren's syndrome were found, and six patients showed the histologic signs of labial gland fibrosis. Five of these cases belonged to the group of limited cutaneous systemic sclerosis that indicates the generalized nature of the fibrotic processes even in systemic sclerosis with less extensive skin involvement. Of the 10 cases investigated by electron microscopy, all but one showed a thickening of the capillary basal lamina, lamellar arrangement within the basement membrane, or capillary endothelial vacuolization. Three of these cases belonged to the patients with disease onset within 2 years, showing that capillary vascular lesion is present in the early cases and that vascular injury affects even those tissues that do not seem to be evidently involved by clinical examination.
Antibodies, Antinuclear↗
Sjögren's syndrome, primary biliary cirrhosis and overlap with scleroderma symptoms.
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Humans↗