THIAGO DE ALMEIDA BEZERRA
Projetos de Pesquisa
Unidades Organizacionais
LIM/56 - Laboratório de Investigação em Dermatologia e Imunodeficiências, Hospital das Clínicas, Faculdade de Medicina
13 resultados
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conferenceObject Primary Immunodeficiency Disorders (PID) in a Specialized Dermatology Outpatient Unit in Sao Paulo, Brazil(2014) VASCONCELOS, D. Moraes; DOMINGUES-FERREIRA, M.; CHUFFI-BARROS, N.; BEZERRA, T. A.; BERTOLINI, D. L.; MUNIZ JUNIOR, R.; PRESTES-CARNEIRO, L. E.; DUARTE, A. J.conferenceObject Phenotypic and Genotypic Changes in CVID Patients(2012) COLLANIERI, Anna Cristina; SOARES, Maria Cecilia Pereira; ALMEIDA, Lais Pinto de; BEZERRA, Thiago de Almeida; DUARTE, Alberto Jose da Silva; MORAES-VASCONCELOS, Dewton deCommon variable immunodeficiency (CVID) is a humoral immunodeficiency. In recent years, the discovery of related genes has broadened, including TACI, ICOS, CD19, CD20, CD81 and BAFF-R. We selected 20 CVID patients and 20 controls. We evaluated CD154 in T cells, markers in B cells (CD19, CD20, CD21, CD40, BAFF-R, CD5, CD27, IgM and IgD), PBMC cultures, and sequencing of the TACI, BAFF and BAFF-R genes. The genotyping of TACI showed 5/17 patients presented allelic variants: a non-pathogenic allelic variant in exon 2 (G>A in g19525, c94), a previously described mutation in exon 3 (g23216T>C; c310 T>C; p C104R), one intronic SNP in g23376 A>C, a heterozygous SNP at position g31695 A>T, possibly pathogenic and not previously described in exon 4, and a heterozygous SNP g32491T>C. The genotyping of BAFF showed one previously unpublished heterozygous allelic variant (g336A>G, c69A>G), but predicted to be a non-pathogenic polymorphism. The evaluation of BAFF-R genotype showed an intronic homozygous genetic variant in g1027T>A, between exons 2 and 3, not previously described and predicted as pathogenic, affecting the splice-site of exon 3.conferenceObject Phenotypic and Genotypic Changes in CVID Patients(2014) VASCONCELOS, D. Moraes; BEZERRA, T. A.; COLLANIERI, A. C.; OLIVEIRA, T. P.; BARRETO, C. C.; DUARTE, A. J.conferenceObject APECED AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS AND ECTODERMAL DYSTROPHY AND ESOPHAGEAL RUPTURE BY CANDIDIASIS IMMUNODEFICIENCY(2016) BERTOLINI, Dalton Luis; MORAES-VASCONCELOS, Dewton; DOMINGUES-FERREIRA, Mauricio; BEZERRA, Thiago de AlmeidaconferenceObject Hereditary Angioedema: Report of 68 Cases(2014) GRUMACH, A. S.; DOMINGUES-FERREIRA, M.; CHUFFI-BARROS, N.; BEZERRA, T. A.; BERTOLINI, D. L.; MUNIZ JUNIOR, R.; PRESTES-CARNEIRO, L. E.; DUARTE, A. J.; VASCONCELOS, D. MoraesconferenceObject Angioedema Due to Acquired C1-Inhibitor Deficiency(2012) BEZERRA, Thiago de Almeida; ALMEIDA, Lais Pinto de; PEREIRA, Juliana; DUARTE, Alberto Jose da Silva; MORAES-VASCONCELOS, Dewton deAngioedema due to acquired C1-inhibitor deficiency is a rare, life-threatening disease with poorly defined etiology, therapy, and prognosis. It is characterized by increase in vascular permeability (angioedema) of the skin, the gastrointestinal and oro-pharyngo-laryngeal mucosa. The mediator of symptoms is bradykinin, released from HMW kininogen, cleaved by plasma kallikrein, a serine protease controlled by C1-INH. We report one 58 years old female patient with acquired C1-INH deficiency. The age at onset of angioedema was 58 years (May, 2011). C1-INH function and C4 antigen quantitation were below 50% of normal. C1q was also reduced. Associated disease was a B cell follicular non-Hodgkin lymphoma. Autoantibodies inactivating C1-INH are detected in the majority of patients and account for the deficiency. Lymphoproliferative diseases, ranging from benign monoclonal gammopathies to malignant lymphoma, are frequently associated with AAE. Antifibrinolytic agents are more effective than attenuated androgens in long-term prophylaxis. Patients with acquired C1-INH deficiency may be resistant to replacement therapy with C1-INH plasma concentrate.conferenceObject IL-12RB1 DEFICIENCY AND CRYPTOCOCCAL MENINGITIS: CASE REPORT(2012) ALMEIDA, L. P.; KHOURY, Z.; SZESZS, M. W.; BEZERRA, T. Almeida; ORII, N. M.; MORAES-VASCONCELOS, D.The host immune response to C. neoformans infection is the result of a complex interplay between cellular and humoral immunity that often guarantees the control of infection in the immunocompetent host. Mendelian susceptibility to mycobacterial disease (MSMD) is associated to defects in the IL-12/23/IFN-gamma axis, leading to proneness to in tracellular/intravesicular pathogens such as Mycobacteria, Salmonella, Paracoccidioides and Histoplasma species. We are not aware of any Cryptococcal infection in MSMD patients. Herein we describe a case of the rare association between IL-12Rb1 deficiency and Cryptococcal meningitis. CMK, 29 years-old, female, referred to our service with symptoms of meningitis associated to signs of intracranial hypertension. The CSF exam showed a neutrophilic pattern and Cryptococcal cells were identified. NMR imaging showed several intraparenchymal lesions. The immunological evaluation showed normal lymphocytes count, negative serology to HIV, no proliferative response to PPD stimuli, despite previous BCG vaccination in childhood. Serum immunoglobulin concentrations were normal. The flow cytometric evaluation of the IL-12/23/IFN-gamma axis showed absent expression of IL-12RB1. We are now waiting for the molecular confirmatory test. The patient was treated with Amphotericin B and 5-fluorocytosine, without an adequate response. Fluconazole was added to the therapy without significant improvement. Unfortunately IFN-gamma is not approved by the Brazilian Ministry of Health, so we tried to get it by a judicial requirement. We then started IFN-gamma replacement with a quick improvement and complete neurological recovery. We believe that this is the first case of the association of CD212 deficiency and neurocryptococcosis.conferenceObject Odontological Treatment in Patients with Hereditary Angioedema(2014) VILARIM, R. C. Bonatto; MARTINS, S. Oliveira; PERES, M. P. Siqueira Melo; MENDONA, L. Oliveira; BEZERRA, T. A.; D'OTTAVIANO, F. Loffredo; DOMINGUES-FERREIRA, M.; MOTTA, A. A.; VASCONCELOS, D. MoraesconferenceObject Hereditary Angioedema: Report from 62 Cases(2012) GRUMACH, Anete Sevciovic; BARROS, Noac Chuffi; DOMINGUES-FERREIRA, Mauricio; ALMEIDA, Lais Pinto de; BEZERRA, Thiago de Almeida; LEVY, Ariel; MADALENA, Cintia Vargas; DUARTE, Alberto Jose da Silva; MORAES-VASCONCELOS, Dewton deHereditary angioedema (HAE) is characterized by deficiency of the C1 esterase inhibitor. This protein controls the activation of complement and also the process of coagulation, fibrinolysis, and bradykinin pathway. It is characterized by attacks of angioedema affecting the subcutaneous tissue, the respiratory and gastrointestinal tracts. The frequency of HAE is estimated in 1 in 10,000 or 50,000 and respiratory involvement is fatal in 25–40% of untreated cases. We collected data of 62 patients followed at the ADEE-3003. There was female predominance (42/62), with wide variation in age (8–70 years), symptom onset in childhood and adolescence in most cases. 17% of patients had at least one episode of edema, the triggers were trauma (13/62), stress (4/62), and menstrual cycle (3/62). Family history was positive in 40/54. Quantitative defect was confirmed in all. Although there are several reports of cases of HAE in other countries, this diagnosis is rarely recognized in our country. Although the sample includes adult patients the first symptoms appear in childhood and adolescence. The family history was crucial in the investigation of immunodeficiency.conferenceObject EVALUATION OF ANTIVIRAL IMMUNITY IN NASAL WASH OF PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY ALONG WITH VIRAL RHINOSINUSITIS.(2017) BEZERRA, Thiago de Almeida; MORAES-VASCONCELOS, Dewton de; PONTILLO, Alessandra; DUARTE, Alberto Jose da Silva; MACHADO, Clarisse Martins; VOAS, Lucy Santos Vilas