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1.
Clinical,immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study 总被引:5,自引:0,他引:5
Plebani A Soresina A Rondelli R Amato GM Azzari C Cardinale F Cazzola G Consolini R De Mattia D Dell'Erba G Duse M Fiorini M Martino S Martire B Masi M Monafo V Moschese V Notarangelo LD Orlandi P Panei P Pession A Pietrogrande MC Pignata C Quinti I Ragno V Rossi P Sciotto A Stabile A;Italian Pediatric Group for XLA-AIEOP 《Clinical immunology (Orlando, Fla.)》2002,104(3):221-230
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG. 相似文献
2.
A case report of paraplegia secondary to a malignant B-cell lymphoma primary in the cauda equina is presented. Initial diagnosis was suggested on cytocentrifuge preparations of cerebrospinal fluid with subsequent tissue confirmation following bilateral laminectomy (T12-L3). Histologically, the tumor was a diffuse "histiocytic" lymphoma by Rappaport's or large noncleaved FCC lymphoma by Lukes and Collins classification. Immunologic studies typed the tumor as a B-cell neoplasm with lambda light chains. Following an extensive evaluation of the patient, the lymphoma was found to be limited to the lower spinal cord. Although radiotherapy was initiated there was no improvement of her neurological symptoms, and CSF cytology remains positive for rare malignant cells 2 months after diagnosis. A complete reevaluation at 3 months after laminectomy was negative for lymphoma involvement of other sites. 相似文献
3.
Giovanna Russo-Mancuso Felicia Di Gregorio Enrica Passero Antonella Sciotto Maria Clorinda Mazzarino† Grazia Malaponte† Gino Schilirog 《British journal of haematology》1995,89(2):291-298
Summary. α-interferon (α-IFN) has been used to treat chronic non-A non-B hepatitis in thalassaemic patients with response rates from 45% to 83%. Unfortunately, treatment with α-IFN is associated with side-effects which have a negative effect on the quality of life of the patient. Therefore it would be useful if we could distinguish in advance those patients who would benefit from such therapy from those who would not. In the present study we found that the modification of lymphocyte subsets 20 h after the administration of the first dose of α-IFN revealed that relative numbers of T helper lymphocytes (CD4+ ) increased in three non-responding patients and decreased in five responding patients, whereas those of T suppressor lymphocytes (CD8+ ), and natural killer cells (CD57+ . CD16+ ) decreased in non-responding patients and increased in responding patients. Therefore analysis of the lymphocyte subsets CD4, CD8, CD57 and CD16 before and 20 h after the administration of α-IFN can be used to predict the clinical response to treatment with α-IFN. 相似文献
4.
5.
S Musumeci G Schiliro M A Romeo A Sciotto A Rosalba G Pizzarelli 《Archives of disease in childhood》1979,54(12):954-957
Lymphocyte subpopulations were studied in 20 hypertransfused patients with beta-thalassaemia major, some of whom had been splenectomised. B-lymphocytes were normal but T-lymphocytes were decreased in all patients. The T-cell count was lower in the splenectomised patients than in the nonsplenectomised ones. In the former, the active rosette-forming lymphocytes were also diminished, but the difference was not significant. In all patients the percentage of null cells was greater and the activity of K-cells increased compared with controls. 相似文献
6.
7.
Annarosa Soresina Renata Nacinovich Monica Bomba Morena Cassani Anna Molinaro Antonella Sciotto Silvana Martino Fabio Cardinale Domenico De Mattia Caterina Putti Rosa Maria Dellepiane Leonardo Felici Giovanni Parrinello Francesca Neri Alessandro Plebani 《Journal of clinical immunology》2009,29(4):501-507
Introduction The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients
through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years,
comparing child perception to that of the parents and the physician’s evaluation. The data were compared with the ones of
80 healthy controls and the literature data of a group of patients with rheumatic diseases.
Discussion The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher
than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia
pediatric patients is discussed.
Annarosa Soresina and Renata Nacinovich contributed equally to this article. 相似文献
8.
S Musumeci A Sciotto A Rosalba S L Volti F Mollica 《Archives of disease in childhood》1980,55(7):541-543
The immunoglobulins, complement components C3 and C4, lymphocyte subpopulations, and K-cell activity were studied in 13 children with anaphylactoid purpura and in 12 children of the same ages who acted as controls. The children with anaphylactoid purpura had significantly lower T-cell counts, greater K-cell activity and IgM values, and lower C3 levels than the controls. 相似文献
9.
A Fiumara A Sciotto R Barone G D'Asero S Munda E Parano L Pavone 《Pediatric neurology》1999,21(3):619-621
A possible role of the immune system in the pathogenesis of some neurologic disorders, including infantile autism, was recently postulated. This observation prompted the authors to investigate some immunologic aspects in a group of patients with Rett syndrome, a disorder still not completely clarified but with some points of commonality with infantile autism. Humoral and cell-mediated immunity were investigated in 20 females with Rett syndrome. Peripheral lymphocyte subsets revealed a reduced percentage of CD8+ suppressor-cytotoxic cells in all of the patients with Rett syndrome, resulting in an increased CD4+/CD8+ ratio. In addition, 15 (75%) of the 20 patients had low levels of natural killer cells. Soluble interleukin-2 receptor was elevated in the youngest patients. Antineuronal and antimyelin ganglioside antibodies were absent, as were antinuclear antibodies, antistriated muscle antibodies, and antismooth muscle antibodies. Immunoglobulin fractions and complement were normal for age in all of the patients. 相似文献
10.
Use of monoclonal antibodies for analyzing the distribution of the intermediate filament protein vimentin in human non-Hodgkin''s lymphomas. 总被引:3,自引:1,他引:2
A series of human non-Hodgkin's lymphomas was examined for immunoreactivity with monoclonal antibodies to the intermediate filament protein vimentin with the use of an avidin-biotin immunoperoxidase method. The lymphoid cell nature of each tumor was established with the use of a panel of monoclonal antibodies to lymphoid cell differentiation antigens. There were 28 B-cell and 2 T-cell lymphomas in the series; of the 30 tumors, 11 (37%) were immunoreactive for vimentin. There was no correlation between vimentin immunoreactivity and the histopathologic type of lymphoma. In some tumors, there was nonspecific stromal immunoreactivity for vimentin, but the neoplastic lymphocytes were not immunoreactive. The selective expression of vimentin in non-Hodgkin's lymphomas may be due to masking of the appropriate epitopes or to selective expression of the vimentin gene in certain tumors. On the basis of these results, monoclonal antibodies to vimentin appear to be of limited usefulness in establishing the diagnosis of non-Hodgkin's lymphoma. 相似文献