About this Research Topic
Primary Immunodeficiencies are a group of approximately 300 diseases characterized by recurrent or chronic infections, autoimmunity, allergy, or inflammation as a consequence of genetic alterations affecting the immune system. The overall incidence is around 1:10,000 and they are more prevalent in children. According to the IUIS, primary immunodeficiencies are classified in 8 groups: combined immunodeficiencies; predominantly antibody deficiencies; diseases of immune dysregulation; congenital defects of phagocyte number, function, or both; defects in innate immunity, autoinflammatory disorders, complement deficiencies, and phenocopies of primary immunodeficiencies.
The field of Primary Immunodeficiencies is growing fast in terms of scientific knowledge and outreaching doctors and patients worldwide, as a consequence of educational initiatives, scientific meetings, medical society’s activities, supporting agencies, and patient associations. Humans are genetically heterogeneous, and the environmental characteristics and social habits differ dramatically in the several geographic regions of the world.
Consequently, the prevalence and distribution of the eight groups of primary immunodeficiencies vary worldwide, and the clinical profile of a particular primary immunodeficiency will also vary.
Most of the literature and discoveries about Primary Immunodeficiencies come from North America and Europe and refer to these geographical areas. More recent literature provides evidence that patients with the same disease may present a different clinical profile and outcome. Moreover, there are some primary immunodeficiencies that are described in particular geographical areas.
Considering the gap in the knowledge of Primary Immunodeficiencies worldwide, this issue was developed to educate doctors and other health professionals from the diverse geographical areas of the world, helping them to recognize and manage patients with primary immunodeficiencies. Topics that will be covered include:
• Different phenotypes for the same gene defect according to the geographical area
• Types of PIDs and relative abundance in geographical areas (esp. the issue of consanguineous marriage, closed communities, etc.)
• Genotypic variation: any clusters for particular geographical areas?
• Infectious diseases and primary immunodeficiencies (esp. Tropical diseases)
• Access and consequences, what should be considered as a minimum requirement
• World map of diagnostic procedures
• Costs and support, public health, private health, the role of the industry
• Alternative low cost tests development
• Newborn screening world map the BCG ISSUE
• Access, Costs and support, public health, private health, the role of the industry
• Immunoglobulin substitution (esp. costs and support, public health, private health, the role of the industry)
• Specific immunoglobulin therapy requirements
• Stem cell transplantation (esp access, difficulties, costs etc.)
• Would gene therapy help developing countries in the future?
• Vaccines in PID
• Treatment of non-infectious complications (malignancies, autoimmunity, granulomatous disease, etc.)
Keywords: Primary immunodeficiencies, epidemiology, diagnosis, treatment, disease pathogenesis
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