Browsing by Author "Pinto, MV"
Now showing 1 - 3 of 3
Results Per Page
Sort Options
- Motivations for Paediatric Vaccine Trial ParticipationPublication . Hillson, K; Kantor, J; Pinto, MV; Pollard, AJ; Kelly, D; Vanderslott, S
- Precision Medicine: The Use of Tailored Therapy in Primary ImmunodeficienciesPublication . Pinto, MV; Neves, JFPrimary immunodeficiencies (PID) are rare, complex diseases that can be characterised by a spectrum of phenotypes, from increased susceptibility to infections to autoimmunity, allergy, auto-inflammatory diseases and predisposition to malignancy. With the introduction of genetic testing in these patients and wider use of next-Generation sequencing techniques, a higher number of pathogenic genetic variants and conditions have been identified, allowing the development of new, targeted treatments in PID. The concept of precision medicine, that aims to tailor the medical interventions to each patient, allows to perform more precise diagnosis and more importantly the use of treatments directed to a specific defect, with the objective to cure or achieve long-term remission, minimising the number and type of side effects. This approach takes particular importance in PID, considering the nature of causative defects, disease severity, short- and long-term complications of disease but also of the available treatments, with impact in life-expectancy and quality of life. In this review we revisit how this approach can or is already being implemented in PID and provide a summary of the most relevant treatments applied to specific diseases.
- Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 GenePublication . Coelho, PS; Gouveia, C; Pinto, MV; Neves, C; Cordeiro, AI; Neves, JFC3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.