Primary immunodeficiencies (PID) - called Inborn Errors of Immunity (IEI) since 2020 – is a genetically inherited, heterogenous group of disorders affecting many people over the world. Although significant improvements in detectability and treatment have been made, they remain underdiagnosed.
The initial report done under the auspices of the World Health Organization in 1970 identified 16 distinct primary immunodeficiencies. In the years following the report, tremendous progress was made in the discovery and recognition of primary immunodeficiencies. This was possible due to great energy and enthusiasm from scientists and doctors, as well as the introduction of new diagnostic and therapeutic tools. Next-generation sequencing techniques lead to increased number of recognized disorders. According to the 2019 report of International Union of Immunological Societies (IUIS) we now have over 400 distinct disorders with over 400 different genes listed. This progress occurred over the past decades mainly in Western Europe and in the US.
Until the late 80’s and 90’s, Central and Eastern European (ECE) countries remained isolated with limited access to scientific knowledge, diagnostic tools and therapeutic methods. Only personal connections with different centers from Western Europe and US, and direct collaboration, made some progress possible in that region. Significant efforts were made to overcome the large gap between Central-Eastern and Western Europe in terms of IEI diagnostics, including molecular tests, treatment, and education. One of the most important was JProject, initiated in early 2000’s.
Therefore, the main aim of this Research Topic is to explore the collaboration within ECE region as well between centers from ECE and Western Europe and US in the field of diagnosis and treatment of different primary immunodeficiencies as well as in education. We welcome the submissions of Original Research articles, Commentary, Opinion and Reviews resulting from mentioned collaboration and own experience covering the following themes:
- Molecular defects in IEI
- Diagnostics achievements
- Clinical characteristics of different IEI
- Region - specific IEI
- Therapeutic possibilities and current treatment of different IEI
- Collaboration within JProject Group
- Education and awareness of IEI
Primary immunodeficiencies (PID) - called Inborn Errors of Immunity (IEI) since 2020 – is a genetically inherited, heterogenous group of disorders affecting many people over the world. Although significant improvements in detectability and treatment have been made, they remain underdiagnosed.
The initial report done under the auspices of the World Health Organization in 1970 identified 16 distinct primary immunodeficiencies. In the years following the report, tremendous progress was made in the discovery and recognition of primary immunodeficiencies. This was possible due to great energy and enthusiasm from scientists and doctors, as well as the introduction of new diagnostic and therapeutic tools. Next-generation sequencing techniques lead to increased number of recognized disorders. According to the 2019 report of International Union of Immunological Societies (IUIS) we now have over 400 distinct disorders with over 400 different genes listed. This progress occurred over the past decades mainly in Western Europe and in the US.
Until the late 80’s and 90’s, Central and Eastern European (ECE) countries remained isolated with limited access to scientific knowledge, diagnostic tools and therapeutic methods. Only personal connections with different centers from Western Europe and US, and direct collaboration, made some progress possible in that region. Significant efforts were made to overcome the large gap between Central-Eastern and Western Europe in terms of IEI diagnostics, including molecular tests, treatment, and education. One of the most important was JProject, initiated in early 2000’s.
Therefore, the main aim of this Research Topic is to explore the collaboration within ECE region as well between centers from ECE and Western Europe and US in the field of diagnosis and treatment of different primary immunodeficiencies as well as in education. We welcome the submissions of Original Research articles, Commentary, Opinion and Reviews resulting from mentioned collaboration and own experience covering the following themes:
- Molecular defects in IEI
- Diagnostics achievements
- Clinical characteristics of different IEI
- Region - specific IEI
- Therapeutic possibilities and current treatment of different IEI
- Collaboration within JProject Group
- Education and awareness of IEI