Márcia Buzolin

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AIM We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. RESULTS Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was(More)
Implementing precise techniques in routine diagnosis of chronic granulomatous disease (CGD), which expedite the screening of molecular defects, may be critical for a quick assumption of patient prognosis. This study compared the efficacy of single-strand conformation polymorphism analysis (SSCP) and high-performance liquid chromatography under partially(More)
Hereditary Angioedema is an autosomal dominant inherited disease leading to oedema attacks with variable severity and localization predominantly caused by C1-INH deficit. More than 400 mutations have been already identified, however no genetic analysis of a Brazilian cohort of HAE patients with C1-INH deficiency has been published. Our aim was to perform(More)
To the Editor Recombination activating genes 1 and 2 (RAG1 and RAG2) encode proteins critically involved in V(D)J recombination [1, 2]. Complete RAG deficiency is associated with typical SCID and absence of T and B cells; however, other clinical presentations can occur with hypomorphic mutations [2–5]. Chou et al. in 2012 [6] described the first cases of a(More)
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