This Research Topic is the third volume in this series, "Community Series in Primary Immunodeficiencies Worldwide". Please see volume II
here.
Primary Immunodeficiencies (PIDs) encompass a diverse group of approximately 300 diseases characterized by recurrent infections, autoimmunity, allergies, or inflammation due to genetic alterations impacting the immune system. With an incidence rate of about 1 in 10,000, these conditions are more prevalent in children. The International Union of Immunological Societies (IUIS) classifies PIDs into eight distinct groups, including combined immunodeficiencies and predominantly antibody deficiencies, among others. The field of PIDs is rapidly advancing, driven by educational initiatives, scientific meetings, and the efforts of medical societies and patient associations. However, the majority of research and discoveries have historically been concentrated in North America and Europe, leading to a gap in understanding the global prevalence and clinical profiles of PIDs. Recent studies indicate that patients with the same genetic defect may exhibit different clinical profiles and outcomes based on their geographical location, underscoring the need for a more comprehensive global perspective on PIDs.
This research topic aims to bridge the knowledge gap in Primary Immunodeficiencies worldwide by educating healthcare professionals across diverse geographical regions. The objective is to enhance the recognition and management of PIDs, taking into account the varying prevalence, distribution, and clinical manifestations of these conditions globally. By addressing the unique challenges and opportunities in different regions, this research topic seeks to improve the diagnosis, treatment, and overall care of patients with PIDs. Key questions include understanding the epidemiological variations, diagnostic accessibility, and treatment disparities across different geographical areas.
To gather further insights into the global landscape of Primary Immunodeficiencies, we welcome articles addressing, but not limited to, the following themes:
- Epidemiology: Variations in phenotypes for the same gene defect by region, types of PIDs and their prevalence, and genotypic variations.
- Diagnosis: Access to diagnostic procedures, cost considerations, and the development of alternative low-cost tests.
- Treatment: Access to treatments, costs, the role of public and private health sectors, and the potential of gene therapy in developing countries.
- Infectious diseases and PIDs, particularly in relation to tropical diseases.
- The impact of consanguineous marriages and closed communities on the prevalence of PIDs.