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IDENTIFICATION OF SEVERAL TYPES OF PRIMARY IMMUNODEFICIENCY IN SYSTEMIC LUPUS ERYTHEMATOSUS

Grant number: 09/06934-0
Support type:Scholarships in Brazil - Master
Effective date (Start): August 01, 2009
Effective date (End): July 31, 2011
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Luiz Eduardo Coelho Andrade
Grantee:Sandro Félix Perazzio
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Introduction: Systemic Lupus Erythematosus (SLE) is one of the most common systemic auto-immune disease and considered the prototype for systemic auto-immune condition. The beginning of the illness and its variation in intensity result of innumerable factors: hormones, microrganisms, UV light, stress, diet, genetics, amongst others. In all the cases, there seems to be the participation of endogenous and exogenous starting factors and the modulation for the neuro-hormonal environment. Apparently, there is special importance the participation of genes that induce some forms of primary immunodeficiency (PID), as the deficiency of C2, C4, C1q and variants of Fc³RIIa, Fc³RIIb, Fc³RIIIa and Fc³RIIIb. It allows assuming that some of these cases correlate with the existence of some form of underlying IDP. The deficiency of the Mannose Binding Lectin (MBL) seems to be associated with higher susceptibility to auto-immune illnesses, according to Mullighan and cols (2000). Winkelstein et al. (2000) had raised 368 cases of Chronic Granulomatous Disease and had found 2.7% of prevalence of discoid lesions and 0.5% of SLE, and additionally some cases in first degree relatives of patients. Recently, Cassidy et al (2007) had detected a frequency of 5,2% of Selective IgA Deficiency in juvenile SLE and 2.6% in adult lupics. About 25% of patients with Common Variable Immunodeficiency develop some auto-immune manifestation, including SLE. Similar cases to SLE in patients with Auto-immune Lymphoproliferative Syndrome (ALPS) had been described. Zonios et al (2008) had found 3 cases of SLE in 39 patients with Idiopathic CD4+ lymphocytopenia. There are a few cases of LES in patients with Hiper-IgM syndrome.Objectives: 1) Estimate the relative importance of the presence of PID in SLE by searching a set of PID in a consecutive cohort of patients with SLE and in a sample of healthy controls. 2) Compare the clinical characteristics of the SLE patients with and without IDP evidences.Materials and methods: 300 patients with SLE followed in the out-clinic of Rheumatic Auto-Immune Diseases of UNIFESP and 300 controls recruited from blood donors will be included in the trial. All of them will be submitted to clinical interrogation and physical examination and will have a blood sample collected for determination of fractions of Complement cascade and MBL, immunoglobulin seric dosages and IgG subclasses, quantitative analysis of the reply of IgG after vaccination against pneumococos and tetanus (patient without imunossupressor medications) and quantification of the oxidative burst in neutrophils. Those who present alteration of any examination will be submitted to a new blood collection after 60 days for confirmation of the result. In cases of SLE activity of the illness, patients will be followed and submitted the new examinations after the end of flare or excluded if keeping activity until February 2011. The statistical analysis for continuous variable will be made with test t of Student and for the qualitative ones with the Chi-square, using SPSS software.

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