About this Research Topic
Primary immunodeficiencies are genetically inherited, heterogeneous group of disorders affecting almost two million people over the world. Although significant improvements in detectability and treatment were made, they remain underestimated. 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 progresses in the field of recognition were made. This was possible due to great energy and enthusiasm from scientists and doctors, as well as new diagnostic and therapeutic tools. The next-generation sequencing techniques lead to an increased number of recognized disorders. According to the 2017 report of the International Union of Immunological Societies (IUIS) we now have 354 distinct disorders with 344 different genes listed. This progress was done over the past decades mainly in Western Europe and in the US.
Until the late 80's and '90s, Eastern and Central 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 the US, and direct collaboration made some progress possible in that region. A lot of efforts were made to overcome the large gap between Central-Eastern and Western Europe in terms of PID diagnostics, including molecular tests, treatment, and education. The most important was JProject, initiated in early 2000s.
Therefore, the main aim of this Research Topic is to expose the collaboration within ECE region as well between centers from ECE and Western Europe and the US in the field of diagnosis and treatment of different primary immunodeficiencies. 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 PID
· Diagnostics achievements
· Clinical characteristics of different PID
· Region-specific PID
· Current treatment of different PID: IVIG, HSCT, biological treatment in autoinflammatory diseases
· Collaboration within JProject Group
· Awareness of PID
Keywords: Primary Immunodeficiencies, Antibody Deficiencies, SCID, NBS, Newborn Screening, Immunoglobulin Therapy, JProject, Awareness, Education, Diagnosis, Treatment
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