With the adoption of the federal low of Russian Federation N 323-ФЗ from November, 21th 2011 'On the basics of health protection of citizens of Russian Federation' rare illnesses received an official status and were consolidated by the 44th article of law.
This makes a serious potential for development of Russian practical medicine and allows to increase effectiveness of diagnostics and treatment. However, not everywhere legal regulations have begun to be fully implemented. Particularly, the matter is about a whole group of illnesses that are connected with inherent immune deficiency. Primary immunodeficiencies (PID) are induced by genetic conditions in (which immune system does not function properly) (which are influencing on the properly function of the body's immune system). Today more than 250 such conditions have been described. These genetic defects of the immune system play as causes for increased susceptability to a wide variety of infections. If PID is not recognized during diagnostics the immune system gets under threat leading to development of chronic illnesses, disabilities, loss of capacity for work and quality of patients` and their relatives’ lives. The current rates of detection show that 1 in 8000-10000 people are carries of PID at the genetic level which has adverse effects on their health. And for many Russian children the PID diagnosis means a death sentence. An experience of leading countries demonstrates that effectiveness of treatment for PIDs depends on common actions of NGOs and authorities. This approach allows to speed up the process of infrastructure formation for struggle against devastating consequences of PIDs for health of Russian Federation citizens. In particular, the doctor's awareness of PIDs will lead to increase in number of diagnoses, diagnostics development, creation and extension of the national register of those affected, improvement of professional skills Russian immunologists, transplantologists, improvement of higher and professional education, increase in the number of experts, creation of centers for qualified treatment in regions, setting up of the national donor bank, growth of the Russian pharmacology, of the system of social rehabilitation and etc. Only by joint forces of society and state we can make up with decades of lag relative to western countries in practical immunology.