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Статті в журналах з теми "Immunodeficienza comune variabile"
Paats, Astrid, Marcos Vázquez, and Isabel Acosta Colman. "Systemic lupus erythematosus and variable common immunodeficiency: two sides of the same coin." Revista Paraguaya de Reumatología 6, no. 2 (December 30, 2020): 85–87. http://dx.doi.org/10.18004/rpr/2020.06.02.85.
Повний текст джерелаMoore, Penny L., Elin S. Gray, Isaac A. Choge, Nthabeleng Ranchobe, Koleka Mlisana, Salim S. Abdool Karim, Carolyn Williamson, and Lynn Morris. "The C3-V4 Region Is a Major Target of Autologous Neutralizing Antibodies in Human Immunodeficiency Virus Type 1 Subtype C Infection." Journal of Virology 82, no. 4 (December 5, 2007): 1860–69. http://dx.doi.org/10.1128/jvi.02187-07.
Повний текст джерелаMilone, Michael C., Jonathan Fish, Carmine Carpenito, Mehdi Lakal, Ella Ofori, Gwenn Danet-Desnoyers, James L. Riley, Stephan A. Grupp, and Carl H. June. "Chimeric Immunoreceptor (T-Body) Targeting of Acute B-Cell Lymphoblastic Leukemia (B-ALL) through Lentivirus Engineering of Primary Human T Cells." Blood 108, no. 11 (November 16, 2006): 3267. http://dx.doi.org/10.1182/blood.v108.11.3267.3267.
Повний текст джерелаLee, Daniel W., James N. Kochenderfer, Rimas J. Orentas, Elizabeth G. Gardner, and Crystal L. Mackall. "ALL Xenografts Reveal the Importance of Anti-CD19-Chimeric Antigen Receptor Cell Dose, Cell Persistence and Surprising Antitumor Activity of CD4+ Anti-CD19-CAR T Cells in Eradicating Pediatric Acute Lymphocytic Leukemia In Vivo." Blood 118, no. 21 (November 18, 2011): 574. http://dx.doi.org/10.1182/blood.v118.21.574.574.
Повний текст джерелаMcLaughlin, Diarmuid, Dearbhla McKenna, Cathy Campbell, and Madeline Rooney. "O19 A case of pyogenic arthritis, pyoderma gangrenosum and acne syndrome." Rheumatology Advances in Practice 5, Supplement_1 (October 1, 2021). http://dx.doi.org/10.1093/rap/rkab067.018.
Повний текст джерелаДисертації з теми "Immunodeficienza comune variabile"
Piquer, Gibert Mònica. "Fenotips d'immunodeficiència comuna variable (IDCV) en pacients pediàtrics. Correlació genotip-fenotip en l'evolució clínica i el tractament dels pacients." Doctoral thesis, Universitat de Barcelona, 2017. http://hdl.handle.net/10803/664273.
Повний текст джерелаCommon variable immunodeficiency (CVID) is an immune disorder characterized by a defect of antibody production in relation to recurrent sinopulmonary infections, autoimmune disorders, granulomatous disease and an increased risk of malignancy. CVID is a heterogeneous disease and pediatric patients have a great clinical variability and evolution attributable in part to the fact that it is a diagnosis of exclusion. The present study is focused on the clinical description, the immunological analysis and genetic study (whole exome sequencing) of a cohort of patients diagnosed of CVID with pediatric onset and diagnosis. We study 25 patients where the median age at the first symptom is 4 years old and 9 years old at diagnosis. Most of patients are male, Caucasian race and not inbred. Clinical and immunological characteristics are identified associated with certain phenotypes. Patient with mutations developed more clinical phenotypes and suffer CMV and/or EBV infections. More than half of patients with CVID presented autoimmune disease and 1/3 associated two or more autoimmune diseases. The female patients presented more complex phenotypes and worse prognosis, and patients with expansion of B lymphocytes CD21low presented greater chance of autoimmunity. Five malignancies (4 lymphomas) were diagnosed in four out of the 25 CVID pediatric patients. Since neither a particular immunological nor clinical phenotyping is clearly associated with an increased risk of developing malignancy, we recommend performing screening and prevention of modifiable factors for cancer in all CVID patients regardless of their age. Moreover, in pediatric patients with immunodeficiency and lymphoma, a screening for underlying genetic defects should be considered. This study allows diagnosing more accurately up to 20% of patients because of genetic studies (mutations in TACI, LRBA, PIK3R1 and CTLA4). In these patients has been possible genetic counselling and in 2 of them the fact of establishing a diagnosis of certainty has represented a change in the treatment and therefore in their prognosis.
Lamrini, Hicham. "Identification and characterization of novel molecular causes of primary immunodeficiency : RELA mutations are associated to common variable immunodeficiency and systemic lupus erythematosus." Thesis, Sorbonne Paris Cité, 2018. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2382&f=17275.
Повний текст джерелаBeyond the clinical benefit for diagnosis, the study of patients with primary immunodeficiency (PID) has also largely contributed to the deciphering of the complex molecular mechanisms involved in the human adaptive response against pathogens. Still, a large number of PIDs, especially common variable immunodeficiency (CVID), are genetically not defined. During my thesis, I aimed to identify and characterize novel molecular causes of PIDs based on human natural mutants as a research model (1). By whole-exome sequencing of DNA from patients presenting either with pediatric or familial form of CVID and Systemic Lupus Erythematosus (SLE), we identified three distinct heterozygous single nucleotide variations predicted deleterious in a CVID patient (RELAY306X), a pediatric SLE patient (RELAR329X) and familial SLE patients (RELAH86N). To better understand how the identified mutations may impact the role of RELA in the NF-kB pathway, we confirmed that the two nonsense RELA mutations led to the expression of truncated forms of the protein, while the missense mutation led to the expression of mutated forms of the protein. By immunoblotting of nuclear protein extracts and cellular immunofluorescence, we demonstrated that the two truncated forms of RELA can translocate into the nucleus. Then, using a labeled NF-κB consensus oligonucleotide, we demonstrated that the two truncated forms of RELA were able to bind to DNA. All three mutated RELA proteins, when expressed ectopically, had an impaired transcriptional activity. Finally, we showed by immunoprecipitation that all three ectopically expressed mutated RELA proteins are able to interact with protein partners and form homodimers. As a whole, our results indicate that mutations affecting the transcription factor RELA can be associated with CVID or SLE. Given the previous cases associating RELA haploinsufficiency to autoimmune lymphoproliferative syndrome with autoimmune cytopenia and to TNF-dependent mucocutaneous ulceration and inflammatory intestinal disease, our work widens the spectrum of disease and clinical phenotypes associated with RELA dysfunction and suggests that different RELA mutations lead to different functional consequences
Baldassin, Maíra Pedreschi Marques. "Avaliação do perfil dos linfócitos B de pacientes com Imunodeficiência Comun Variável antes a após administração de antígenos protéicos e polissacarídicos." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/5/5146/tde-13012015-122742/.
Повний текст джерелаIntroduction: Common Variable Immunodeficiency (CVID) is a primary antibody deficiency characterized by defects in B lymphocyte maturation, resulting in disturbed differentiation, distribution and functional variations on its subtypes. As a result , CVID patients have hypogammaglobulinemia and poor antibody response to specific antigens with increased susceptibility to infections. In an effort to minimize the recurrent episodes of infections, some studies have recommended immunization with inactivated pathogens or subunits and in a former study we have shown the clinical improvement determined by immunization in CVID patients, but the experience with vaccines\' administration to immunodeficient patients is limited. Objectives: To evaluate the changes in distribution of B cell subtypes before and after vaccination of CVID patients followed at the Division of Clinical Immunology and Allergy of University of São Paulo Medical School with protein and polysaccharide antigens, as well as specific antibody production . Methods: A group of 35 CVID patients and 16 controls were vaccinated against Influenza, H1N1 and S. pneumoniae vaccines. Blood samples were collected before and 1, 3 and 6 months post vaccination. PBMCs were stimulated with Influenza viral lysate and hemagglutinin peptide. Flow cytometry was performed to identify naïve B cells, marginal zone (MZB), switched memory B cells (SMB) and plasmablasts (PBL). Specific antibody production was measured and a symptoms score was applied for clinical evaluation before and after immunization. Results: In spite of the significant reduction in symptoms score after vaccination, most patients didn\'t produce specific antibodies to Influenza, H1N1 and S. pneumoniae. The analyzes of B cell subtypes changes in healthy individuals upon in vitro Influenza stimulation showed that the response endured up to 6 months post immunization. We observed a reduction in naïve B cell frequency while gradual increase in SMB frequency occurred already at 1 month after vaccination. Moreover, as the memory cell population declined, PBL population increased at the third month post vaccination until the sixth month. Although patients had an increase of SMB on the first month after vaccination, it was lower than that observed in controls, decreasing by the third month post vaccination. Plasmablast frequency had an early increase on the first month, also much lower than the observed in controls decreasing by the third month. In addition, we observed a correlation between the increased expression of SMB and PBL on the first month post vaccination. In patients, only MZB subtype presented a significant increase on the third month when compared to controls. We divided the patients according SMB and PBL expression after 1 month post vaccination and we observed that patients who were able to produce memory B cells showed a better clinical improvement, developed H1N1 seroconversion and seroprotection. Conclusion: Despite the defect on differentiation into memory and effector B cells resulting in early response with lowduration, we observed that patients were able to recognize and respond to vaccines. In addition, the over expression of MZB on the third month after vaccination may suggest the role of this subpopulation as an antigen presenting cell for T cells. These findings reinforce the need of a better understanding of immune system activation and response in CVID patients to propose a division according to vaccine (antigen) responders and non responders