Publications by authors named "Janaira Fernandes Ferreira"
Background: Patients with X-linked hyper-IgM syndrome caused by CD40 ligand (CD40L) deficiency often present with episodic, cyclic, or chronic neutropenia, suggesting abnormal neutrophil development in the absence of CD40L-CD40 interaction. However, even when not neutropenic and despite immunoglobulin replacement therapy, CD40L-deficient patients are susceptible to life-threatening infections caused by opportunistic pathogens, suggesting impaired phagocyte function and the need for novel therapeutic approaches.
Objectives: We sought to analyze whether peripheral neutrophils from CD40L-deficient patients display functional defects and to explore the in vitro effects of recombinant human IFN-γ (rhIFN-γ) on neutrophil function.
Article Synopsis
- - CD40L deficiency leads to weakened macrophage functions, making individuals more susceptible to infections, particularly from fungi and intracellular bacteria.
- - Research showed that macrophages from CD40L-deficient patients had poor fungicidal activity and reduced oxidative responses, but these abilities improved with treatment using recombinant human IFN-γ (rhIFN-γ).
- - Overall, rhIFN-γ not only enhanced macrophage activity in CD40L-deficient cases but also corrected the dysregulated genetic expression in these immune cells, indicating its potential as a therapeutic option.
Article Synopsis
- Hyper-IgM syndrome (HIGM) is a condition with high IgM and low levels of other immunoglobulins (IgG, IgA, IgE) that can lead to a variety of infections.
- A study from the HIGM syndrome Registry in Latin America found molecular defects in 37 out of 58 patients, primarily CD40 ligand deficiency in 35 cases, which was linked to severe respiratory and opportunistic infections.
- This research provides new insights into the genetic and clinical characteristics of HIGM syndrome in Latin America, including previously unreported mutations and the success of bone marrow transplants for some patients.
Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.
J Clin Immunol
April 2012
CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high incidence of fungal infections and other not yet described infections in a cohort of 11 X-HIGM patients from nine unrelated Brazilian families. Among these, we describe the first case of paracoccidioidomycosis (PCM) in X-HIGM.
View Article and Find Full Text PDFBackground: Patients with X-linked hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40L) mutations are susceptible to fungal pathogens; however, the underlying susceptibility mechanisms remain poorly understood.
Objective: To determine whether monocyte-derived dendritic cells (DCs) from patients with X-HIGM exhibit normal responses to fungal pathogens.
Methods: DCs from patients and controls were evaluated for the expression of costimulatory (CD80 and CD86) and MHC class II molecules and for their ability to produce IL-12 and IL-10 in response to Candida albicans and Paracoccidioides brasiliensis.