2 results match your criteria: "centre Assistance publique-Hôpitaux de Paris ; université de Paris[Affiliation]"
Case report: A novel homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
Front Immunol
November 2024
Laboratory of Genomic Medicine, Center of Experimental Research, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.
Article Synopsis
- Inborn errors of immunity (IEI) involve various disorders that can be hard to diagnose early, as shown in a Brazilian patient with severe combined immunodeficiency (SCID) diagnosed at 6 months old due to multiple infections.
- After undergoing hematopoietic stem cell transplantation (HSCT), the patient experienced recurrent infections and tested positive for SARS-CoV-2 multiple times over six months.
- Whole exome sequencing revealed a damaging genetic variant in the Janus Kinase 3 (JAK3) gene, suggesting its role in disrupting protein function and contributing to SCID's pathogenesis.
Contemporary survival trends and aetiological characterization in non-ischaemic dilated cardiomyopathy.
Eur J Heart Fail
July 2020
Cardiovascular Department, Centre for Diagnosis and Management of Cardiomyopathies, Azienda Sanitaria Universitaria Integrata di Trieste (ASUITS), University of Trieste, Trieste, Italy.
Aim: Contemporary survival trends in dilated cardiomyopathy (DCM) are largely unknown. The aim of this study is to investigate clinical descriptors, survival trends and the prognostic impact of aetiological characterization in DCM patients.
Methods And Results: Dilated cardiomyopathy patients were consecutively enrolled and divided into four groups according to the period of enrolment (1978-1984; 1985-1994; 1995-2004; and 2005-2015).