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ABSTRACT: We report on a 60-year-old woman with systemic lupus erythematosus and a total (95%) Clr and a partial (36%) Cls deficiency. The patient complained about cutaneous lesions on forearms and legs without other systemic involvement. Elevated anti-nuclear, anti-native DNA and anti-SSA antibodies were present. The finding of persistently depressed levels of haemolytic complement activity (CH50) on both serum and plasma, associated with normal levels of C3, C4 and C2 components, and normal alternative pathway haemolytic activity showed a deficiency of an early component of the classical pathway. Indeed Clr component was below the limits of detection whereas Cls component was lowered (36%). The depressed CH50 was only corrected by purified Clr. Biosynthesis of Clr and Cls by patient's monocytes was spontaneously normal but not up-regulated by interferon-γ for Clr alone, whereas the biosynthesis of Cls, but also of interleukin-6, was increased, indicating a specific disregulation of Clr. The deficiency was associated with a lupus syndrome and a fatal assumed septic shock. This is in agreement with other reported cases.
Scandinavian Journal of Immunology 06/2006; 40(4):383 - 388. · 2.23 Impact Factor
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ABSTRACT: The syndrome of acquired angioneurotic edema (AAE) is characterized by the adult onset of angioedema, the lack of evidence for inheritance of the disorder, and the frequent association of the C1-inhibitor (C1-INH) deficiency with lymphoproliferative or other malignant diseases. Recently, a new type of AAE (type II AAE) has been described. The two major biologic differences of this new syndrome compared with all other previously reported AAE cases (type I AAE) are the presence in patients' sera of both anti-C1-INH autoantibodies, often monoclonal, and a circulating low molecular weight (95 kd) C1-INH protein. From the clinical point of view, the absence of underlying lymphoproliferative disease is the hallmark of type II AAE compared with type I AAE. However, the distinction between type I and type II AAE may not be so clear-cut. We report three patients with monoclonal gammopathies and AAE for whom the initial diagnosis was type I AAE. The demonstration by ELISA of the C1-INH binding ability of their monoclonal immunoglobulins in addition to the presence of 95 kd C1-INH protein enables us to change the diagnosis to type II AAE. From the therapeutic point of view, it is crucial to detect the anti-C1-INH antibody and to analyze the C1-INH size to distinguish type I and type II AAE, especially if patients have a monoclonal gammopathy, to give the appropriate treatment (attenuated androgens vs immunosuppressive regimen, respectively) to prevent a fatal outcome.
Journal of Allergy and Clinical Immunology 05/1996; 97(4):998-1008. · 11.00 Impact Factor
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Annals of the Rheumatic Diseases 12/1994; 53(11):781-2. · 8.73 Impact Factor
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ABSTRACT: We report on a 60-year-old woman with systemic lupus erythematosus and a total (95%) C1r and a partial (36%) C1s deficiency. The patient complained about cutaneous lesions on forearms and legs without other systemic involvement. Elevated anti-nuclear, anti-native DNA and anti-SSA antibodies were present. The finding of persistently depressed levels of haemolytic complement activity (CH50) on both serum and plasma, associated with normal levels of C3, C4 and C2 components, and normal alternative pathway haemolytic activity showed a deficiency of an early component of the classical pathway. Indeed C1r component was below the limits of detection whereas C1s component was lowered (36%). The depressed CH50 was only corrected by purified C1r. Biosynthesis of C1r and C1s by patient's monocytes was spontaneously normal but not up-regulated by interferon-gamma for C1r alone, whereas the biosynthesis of C1s, but also of interleukin-6, was increased, indicating a specific disregulation of C1r. The deficiency was associated with a lupus syndrome and a fatal assumed septic shock. This is in agreement with other reported cases.
Scandinavian Journal of Immunology 11/1994; 40(4):383-8. · 2.23 Impact Factor
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ABSTRACT: Antineutrophil cytoplasmic antibodies (ANCA) are autoantibodies mainly directed against alpha granules' components (especially proteinase 3 (PR 3) and myeloperoxidase (MPO). They are usually detected by indirect immunofluorescence (IIF) giving essentially two staining patterns, cytoplasmic and perinuclear. Nevertheless the IIF method does not allow to precise the true specificity of ANCA. From now on a better classification of systemic vasculitis requires such a determination. This can be done only by solid phase tests that require to be reliable, highly purified antigen, and, from a practical point of view, only a MPO-ELISA is currently available. We report on our experience with Western blot analysis of 67 IIF-ANCA positive sera. Using Western blot analysis to characterize ANCA specificity is not so easy as in the case of antibodies directed against extractable nuclear antigens: only PR 3 ANCA detection could be done reproducibly. PR 3 ANCA are mainly detected in the c-ACPN positive sera of patients with Wegener's granylomatosis. Nevertheless using both MPO-ELISA and PR 3 blot seems to increase the frequency of serum containing the two types of ANCA (anti PR 3 and anti MPO).
Pathologie Biologie 07/1994; 42(6):575-80. · 1.53 Impact Factor
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ABSTRACT: Autoantibodies directed against cellular constituents rarely react with antigens localized in the Golgi apparatus and little information is available regarding these particular antibodies. Although thousands of samples have been examined for autoantibodies in our laboratory on a routine basis, only three human sera with anti-Golgi antibodies could be studied. Using pre-embedding immunoelectron microscopy we have demonstrated that these sera have antibodies reacting with antigens located in the Golgi apparatus. The reaction product was exclusively located on cisternal and vesicular Golgi membranes. No intraluminal staining was seen and some saccules were negative. No specificity for a peculiar tissue or cell line was noted, suggesting that the targets or these autoantibodies are evolutionarily conserved. The F(ab')2 fragments retained full binding capacity in indirect immunofluorescence experiments, confirming true antibody activity. When tested by immunoblotting, the three sera reacted with different antigens with relative molecular weights of respectively 230, 150 and 80 kDa. The antigens recognized by anti-Golgi antibodies in two of the three sera were insensitive to trypsin degradation. Together, these results suggest that a set of different autoantigens are recognized by sera from various patients.
Journal of Autoimmunity 03/1994; 7(1):133-43. · 7.37 Impact Factor
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British journal of rheumatology 03/1994; 33(2):193.
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ABSTRACT: The association between chronic urticaria, macroglobulinaemia and various other manifestations has been individualized as Schnitzler's syndrome. We report the terminal course of an original case followed up for 20 years, which ended as lymphoplasmocytic lymphoma with multiple sites, whereas no lymphomatous proliferation, meticulously looked for, had never been found hitherto. The lymphoma, associated with a macroglobulinaemia level above 5 milligrams, was diagnosed as Waldenström disease. Although most cases of Schnitzler's syndrome seem to follow a benign course (but the follow-up is not always long) a few cases have been reported showing evolution towards, or association with, lymphoma. This indicates that the follow-up of patients with Schnitzler's syndrome should be prolonged.
Annales de Dermatologie et de Vénéréologie 02/1993; 120(6-7):459-60. · 0.72 Impact Factor
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ABSTRACT: Thirty five (41%) sera presented anti MPO specificity, 26 of them (74%) having a p-ANCA pattern. They were present in patients with vasculitis and isolated or predominant renal involvement, but also in 24% of Wegener patients.
Advances in experimental medicine and biology 02/1993; 336:263-6. · 1.09 Impact Factor
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ABSTRACT: From a series of 67 sera containing anticentromere antibodies we endeavoured to determine the principal clinical or biological peculiarities of these antibodies. The titers of anticentromere antibodies were usually high, with few differences between patients. Humoral immunity was frequently perturbed, with antinuclear autoantibodies (without anti-Scl 70), anti-mitochondria antibodies, rheumatoid factors, circulating immune complexes, etc. The disease predominated in women (97%) whose age and duration of symptoms varied considerably. The most frequent clinical manifestation noted in the 47 reports analyzed was Raynaud's phenomenon (93%) which in most cases (90%) was part of a complete or incomplete CREST syndrome. Telangiectasias, calcinosis and acrosclerosis were the main witnesses to the duration of these sclerodermas. Our findings were concordant with those of previous studies. However, the frequency of sicca syndrome (76%) was unexpected, and must be related to 2 laboratory results: the quasi-absence of anti-SSA and anti-SSB antibodies in our patients and the presence of two monoclonal immunoglobulins (IgM kappa and IgG lambda). There may be some degree of independence between the sicca syndrome and the sclerodermal manifestations.
La Revue de Médecine Interne 12/1992; 13(6):413-4, 417-8. · 0.61 Impact Factor
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ABSTRACT: From 1960 to 1990, 557 patients with ankylosing spondylitis (428 men, 129 women) were diagnosed and indexed in the department of rheumatology. Monoclonal gammopathies were found in seven (five men, two women) patients (1.3%). With one exception, ankylosing spondylitis preceded monoclonal gammopathies by many years. The distribution of the isotypes of the mIg found in these seven patients was striking when compared either with previous reports of an association between ankylosing spondylitis and monoclonal gammopathies or with local data on the epidemiology of monoclonal gammopathies: five patients with IgG, four of them of the lambda (lambda) type, and two IgM, both of the kappa (kappa) type were found; no patients with mIgA were recorded. Two patients were HLA-B27 positive and had slight and transient monoclonal gammopathies, whereas three subjects were HLA-B27 negative and had important spikes, corresponding in two subjects to malignant diseases. This observation raises the question of whether the coexistence of HLA-B27 and ankylosing spondylitis might provide a protective action. Epidemiological studies are required to clarify such points.
Annals of the Rheumatic Diseases 09/1992; 51(8):951-4. · 8.73 Impact Factor
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ABSTRACT: Two cases of the association of monoclonal IgM and ankylosing spondylitis are reported. Their presentations are in accordance with local epidemiological data (monoclonal IgM, both kappa, one of them malignant, discovered in 71 and 79 year-old men). Ankylosing spondylitis does not appear as either favouring the incidence of monoclonal immunoglobulins or, in our opinion, having a major influence on their isotype. Conversely, while each member of this association could have its own story, the possible role of the coexistence of HLA B27 together with ankylosing spondylitis should be considered.
Revue du rhumatisme et des maladies ostéo-articulaires 03/1992; 59(2):155-8.
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ABSTRACT: ANCA positive sera, detected by the standard immunofluorescence method, derived from 37 patients with vasculitis were studied using formalin-acetone fixed chronic myelocytic leukemia cells (CML). All 37 sera were positive on CML cell smears. Furthermore formalin-actone fixation selectively impaired antinuclear antibody binding without reducing ANCA staining and thus facilitated differentiation of these autoantibodies which is often difficult with the standard immunofluorescence method. Two unequivocal and mutually exclusive ANCA binding patterns were identified using the CML smears: (1) type I with diffuse granular binding confined to the polymorphonuclear (PMN) cell lineage and preferentially staining immature cells; (2) type II with similar binding to the PMN cell lineage and, in addition, granular staining of the basophils. All type I antibodies were associated with a c-ANCA pattern suggesting that the major antigen recognized by these antibodies, recently identified as proteinase 3, is not detectable in basophils. The type II pattern was detected in both p-ANCA (84%) and c-ANCA (16%) positive sera. The type I sera remained positive on PMN cells from a myeloperoxidase (MPO) deficient subject and anti-MPO antibodies could not be detected in this group by ELISA. Conversely the type II pattern occurred in the presence of anti-MPO antibodies identified by immunofluorescence, ELISA and dot-blot with the exception of a single serum with antilactoferrin antibody. Type I binding only was observed in Wegener's granulomatosis (WG) but both patterns were found in microscopic polyarteritis (MPA) and rapidly progressive glomerulonephritis (RPGN).
Journal of Immunological Methods 03/1992; 147(1):101-9. · 2.20 Impact Factor
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Revue De Medecine Interne - REV MED INTERNE. 01/1991; 12(6).
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Revue De Medecine Interne - REV MED INTERNE. 01/1991; 12(6).
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ABSTRACT: We report on an unusual association between partial IgA deficiency and acute lymphoblastic leukemia in a young man. We also report results of the family study of immunoglobulin levels, sIgA B cells, in vitro IgA synthesis and molecular analysis of the structural C alpha genes. The IgA deficiency was present at diagnosis of leukemia prior to any therapy. The indirect arguments for a preexisting IgA deficiency are the absence of improvement of the IgA level during complete remission and especially the finding of a similar partial IgA deficiency in a sister who shared the same HLA haplotype, had a low percentage of sIgA B cells and decreased in vitro IgA production. The mother, who had a normal IgA serum level also had decreased in vitro IgA synthesis. No major structural C alpha gene defect was found. The relationship between acute lymphoblastic leukemia and IgA deficiency remains to be elucidated.
Nouvelle revue française d'hématologie 02/1990; 32(2):159-64.
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European Journal Of Haematology 11/1989; 43(4):355-6. · 2.61 Impact Factor
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ABSTRACT: An exceptional family including four brothers with Waldenstrom's macroglobulinemia was studied. The four patients had different light chain IgM monoclonal components: two of the kappa type and two of the lambda type. Anti-idiotypic rabbit antisera, prepared for each monoclonal component, revealed no cross-reactivity. The four brothers did not share a common HLA A B DR haplotype and a genetic linkage to the HLA complex cannot be ascertained. Five of the 12 relatives had high serum immunoglobulin concentration (four IgG, three IgA, and two IgM) without monoclonal components. Two relatives showed auto-antibodies at low titer. Some of the youngest relatives exhibited immunological abnormalities and they may be high-risk subjects with regard to Waldenstrom's macroglobulinemia.
Cancer 11/1989; 64(7):1554-9. · 4.77 Impact Factor
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Annales de Dermatologie et de Vénéréologie 02/1989; 116(8):547-50. · 0.72 Impact Factor
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ABSTRACT: In a 13 year retrospective study mitochondrial antibodies were found in 1.71 p. 100 of patients about 60 years old with a strong female predominance. The presence of these antibodies was associated with a significantly increased level of the three classes of immunoglobulin and a marked cholestatic syndrome. In 76.9 p. 100 of cases the antibodies were associated with hepatic disease, mainly of immunological origin (67.7 p. 100). Primary biliary cirrhosis was the most frequent with significantly increased levels of mitochondrial antibodies, immunoglobin M, alkaline phosphatase and cholesterol. However, there was no correlation between the antibody levels and the clinical, biological and histological stages, thus ruling out any prognostic significance. The use of human cultured cells in the antibody detection assay increased the positivity of antinuclear antibodies compared with assays using classical rat liver substrates. Six sera were positive for anticentromere antibodies: 5/6 showed signs of the CRST syndrome with a primary biliary cirrhosis in 3/5 cases. The frequency of the association of primary biliary cirrhosis and other autoimmune diseases supports the results of previous reports as well as the finding of an association between mitochondrial antibodies and other auto-antibodies. In 3 cases primary biliary cirrhosis was associated with a chronic pancreatitis, suggesting a pluriglandular sicca syndrome, and in 3 other cases with a monoclonal IgA gammopathy. Mitochondrial antibodies are associated with other auto-immune non-hepatic diseases in 15.4 p. 100 of cases. The presence of increased levels of mitochondrial antibodies without any other auto-antibody associated with a chronic non-surgical cholestasis and an increased level of immunoglobulin M is still strongly suggestive of primary biliary cirrhosis.
Annales de medecine interne 02/1988; 139(1):19-23.
