Primary immunodeficiencies worldwide: volume IV

This Research Topic is the fourth volume in this series, " Primary Immunodeficiencies Worldwide". Please see volumes I, II, and III.

Please see Volume I here, Volume II here and Volume III here

Primary Immunodeficiencies (PIDs), also known as Inborn Errors of Immunity (IEI), encompass a diverse group of more than 550 disorders characterised by recurrent infections, autoimmunity, allergies, or inflammation due to genetic alterations affecting the immune system. Estimated prevalence ranges from approximately 1 in 1,200 to 1 in 2,000, with severe forms typically presenting in infancy or early childhood, though many PIDs are also diagnosed in adulthood. The International Union of Immunological Societies (IUIS) currently classifies PIDs into ten 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.

Conflict of Interest Statement

Prof. Eleonora Gambineri declares the following conflicts of interest: receipt of research grants from Pharming and Kedrion.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• Methods
• ... View all formats

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Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Systematic Review
• Technology and Code

Keywords: Primary Immunodeficiencies: Global Epidemiology: Inborn Errors of Immunity: Diagnosis and Treatment Disparities: Genetic Immunodeficiency

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.