Publications by authors named "Luiz Fernando Bacarini-Leite"
Background: Wiskott-Aldrich syndrome is an Inborn Error of Immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, tendency to autoimmune diseases and neoplasms. The diagnosis of the syndrome can be difficult, especially when platelets are of normal size.
Case Report: A three-year-old male patient was referred to a specialized sector of university hospital for presenting acute otitis media that progressed to sepsis by Haemophilus influenzae.
Article Synopsis
- Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a rare cause of recurrent angioedema, with this study focusing on cases from Brazilian reference centers to better understand its characteristics.
- A total of 14 patients were analyzed, mostly female, with an average symptom onset age of 56.5 years, and a median diagnostic delay of 2 years; the primary symptoms were skin-related.
- Most patients had abnormal levels of C4 and C1-INH, and many needed long-term treatment; ultimately, 85.7% found resolution of their angioedema issues with appropriate therapy.
Article Synopsis
- * Researchers analyzed data from 50 patients, noting a median age of 7 months at disease onset and significant delays in diagnosis, along with discovering 6 new mutations in the CD40LG gene.
- * Common symptoms included pneumonia, respiratory infections, and various gastrointestinal issues, with the study documenting the largest number of infectious agents associated with this condition, enhancing insights for diagnosis and management.