Primary immunodeficiency (PID) disorders constitute a major and growing health problem in individuals of all ages, worldwide. They may lead to severe, life-threatening infections and death in early childhood or prolonged, recurrent infections beginning at any age. These conditions affect at least 1 in 1000 individuals, in all countries.
Over the past 10 years, much has been accomplished in Eastern and Central Europe (ECE), under the auspices of the J PROJECT program, which aims to increase awareness of these conditions among physicians and to improve medical training in this domain. However, much remains to be done if we are to achieve the goals outlined in 2004. The last decade has seen an unprecedented increase in our knowledge of the clinical, immunological and genetic features of PIDs. The number of known PIDs now exceeds 250, and more than 200 PID disease-causing genes have been described.
The PID expert representatives of the J PROJECT met in Antalya, Turkey on 12-14 March 2014. They unanimously agreed on the following recommendations and urged their presentation and approval for implementation in ECE countries and elsewhere, throughout the world.
National governments and health departments should take responsibility for supporting healthcare providers, thereby facilitating the diagnosis and treatment of PID disorders early in life, to decrease the heavy burden of disease and mortality rates. Specific plans and programs for the prevention, diagnosis and treatment of PID disorders and their infectious and noninfectious complications, such as cancer, inflammatory and autoimmune diseases and allergy, should be formulated at national and regional levels. Such programs should be implemented through partnerships between professional organizations, patient groups and healthcare providers.
This Declaration calls for prompt and effective action, to ensure the application of current knowledge to the diagnosis and treatment of PID patients, so as to improve the quality of life of these patients considerably. To this end, the following five objectives have been targeted for attainment by the end of 2020:
- EDUCATION of medical students and healthcare professionals should be improved, with the inclusion in the curriculum of PID diseases as an emerging and increasingly important field of clinical medicine. Continuing medical education is also required for physicians practicing in primary care settings and hospitals.
- PUBLIC AWARENESS should be raised to publicize the fact that most PID patients remain undiagnosed and untreated.
- PID GENETIC DIAGNOSTICS should be managed free of charge in each of the J Project countries.
- A PID REGISTER should be established in every J Project country and following diagnosis, data for all PID patients should be entered into national and international databases.
- PERSONALIZED IMMUNOGLOBULIN REPLACEMENT and HEMATOPOIETIC STEM CELL TRANSPLANTATION should be made available to PID patients, and should not be restricted by funding or infrastructure constraints.
To help to achieve these goals, PID research collaboration should receive preferential support from national funding agencies or bodies. These recommendations should be endorsed by national health departments, medical universities and hight schools, PID-related professional societies and patient groups. All the points outlined above should result in measurable reduction of co-morbidity and mortality of PID patients. They should also result in the lag between the first manifestation and definitive diagnosis of PID being less than one year for all patients.