Publications by authors named "Jose Luis Patier-de la Pena"
Background: Common Variable Immunodeficiency (CVID) represents a heterogenic group of primary immunodeficiencies (PID) characterized by impaired antibody production and susceptibility to infections. Non-infectious complications, such as autoimmune diseases, lymphoproliferative disorders, and malignancies, now significantly impact prognosis. Moreover, both hematologic and solid organ malignancies are more frequently observed in CVID patients compared to other PIDs.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to identify the prevalence of late-onset Pompe disease (LOPD) among patients in Internal Medicine departments in Spain who showed possible signs of the disease but were undiagnosed.
- It was a multicenter, observational study that used dried blood spots (DBS) to screen for LOPD, confirming diagnosis through further enzyme activity tests and genetic testing if initial DBS results indicated low enzyme activity.
- The findings revealed a low prevalence of LOPD, confirming the disease in only 2 out of 322 patients (0.6%), suggesting there may be a hidden population that could benefit from earlier diagnosis and treatment.
Article Synopsis
- Common Variable Immunodeficiency (CVID) is a diverse group of primary immunodeficiency disorders that presents a wide range of clinical challenges, including significant non-infectious health issues among patients.
- A nationwide study in Spain over three years examined 250 CVID patients, revealing a diagnostic delay of about 10 years, with infectious complications initially predominant, though non-infectious lung diseases and immune disorders were more common overall.
- The study highlighted a high prevalence of associated conditions, such as benign lymphoproliferation and cancers, indicating a need for further research to develop better treatment strategies and improve the quality of life for those affected by CVID.
Castleman disease (CD) represents a heterogeneous group of lymphoproliferative disorders that share well-defined histopathological features. An observational study of patients with CD was conducted. A total of 53 patients had CD: 20 had the unicentric form (UCD) and 33 the multicentric (MCD) variant; 10 of the latter cases were infected with human herpesvirus-8 (HHV-8) and 23 were idiopathic (iMCD).
View Article and Find Full Text PDF