Sometimes the doctors encounter the following situation: both parents are healthy, all thinkable and unthinkable conditions are provided for the kid, but still he or she frequently and seriously falls ill. One of the possible reasons for these troubles is the unfavorable place of the family residence: toxins in the air, polluted water, other environmental problems of our time. But this unusually bad health may also be due to the child's genetics. And if it were not for a fatal concourse of circumstances, the parents of such a child could spend their whole life unaware of the fact that one or both of them carry mutations in their genetic code, mutations that are manifested as congenital immunodeficiency of their offsprings.

At our department, we treat children with various forms of congenital, that is, primary immunodeficiencies (they are in no way related to AIDS, which is an acquired immunodeficiency). These diseases are a manifestation of genetic defects in the immune system. As is known, immune cells and antibodies (immunoglobulins, which are soluble plasma proteins) circulate in the blood of a healthy person. These components play a crucial role in protecting the organism from infections. However, if the genetic code determining the functioning of the complicated human immune system is impaired by some changes in the hereditary structures, the organism becomes vulnerable and cannot protect itself from infectious and oncological diseases. Infectious diseases in patients with immunodeficiencies are usually severe and hardly respond to the traditional treatment.

A primary immunodeficiency condition was first identified in 1952 by Dr. O.Bruton (USA) in his infant patient. (This patient is still alive, has graduated from a university, and works, receiving the necessary treatment in his country.)

More than 80 forms of congenital immunodeficiencies are presently known. In most cases, the genetic defect responsible for each specific situation has already been established, as well as the molecular disorder due to this defect.

Primary immunodeficiency conditions are encountered in boys more frequently than in girls, because the majority of immune defects are sex-linked. In other words, the mother of a sick boy is outwardly healthy but carries a defective gene, just as in the case with hemophilia in Czarevich Alexei, son of Czar Nicholas II.

Unfortunately, our statistics on congenital immunodeficiencies is far from the actual state of matters, especially in comparison with the data available for developed European countries. For example, the National Registry of Great Britain mentions more than 1500 patients.

The Statistical Registry of the USSR included 450 people with immunodeficiencies in 1990; since that time, this number has decreased in proportion with the decrease in the population of our country. However, the actual number presently expected for Russia is no less than 3500 people suffering from primary immunodeficiency conditions.

Now we are trying to restore the real statistics and collect the data on people with immunodefiencies. The problem is that doctors, especially in regional clinics, often cannot diagnose the problem correctly, and many infants, especially babies with severe forms of congenital immunodeficiencies, die at an age of one or two months. Such patients should be immediately placed in sterile wards. One may recall a sad story that happened in the 1970s, when an American boy with a severe form of immunodefiency lived up to an age of 11 without leaving his personal special sterile suit, a kind of a space suit, fully isolated from the environment.

The situation with the treatment of such patients basically changed in the beginning of the 1980s: the doctors started to use bone marrow transplantation. This method, which is now being successfully used in our clinic as well, became the one way of treatment for patients with severe forms of immunodeficiencies. The more serious the immune system defect, the more indications for this kind of treatment.

Patients with less severe forms are mostly treated using conservative methods. Both in our country and abroad, these methods consist in the immunoglobulin (intravenous) substitution therapy. If the immune defect affects not only immunoglobulin production but also some other aspects, and therefore some problems cannot be resolved just by replacement antibodies, the children receive antimicrobial drugs for many months and even years. These drugs protect the organism from infections.

If a patient receives this treatment in full, his or her existence may be quite comparable to that of an ordinary person: he (or she) can live a long life, work and have children. Although, of course, such people have to choose a profession that is not associated with long outdoor work or health hazards. And, just as diabetics receive their insulin, these people must receive their therapy throughout their lives.

The most severe forms of congenital immunodeficiencies, which cannot be treated with any therapy of the above kinds, require only marrow transplantation.

In addition to the hospital treatment of patients, our department also does some research work. Since 1992 (when the department was founded) we have achieved some good results in the treatment and diagnostics of immunodeficiencies, including prenatal diagnostics. With our assistance, several families gave birth to healthy children.

With the help of the Aleksander Men Help Group and the Regional Public Charity Foundation for Seriously ill and Destitute Children, we try to adhere to the methods of treatment used worldwide and to provide our patients with all the conditions for a complete therapy and normal life within and outside our clinic. Nevertheless, even the Russian Children's Clinical Hospital, with all its high potential (especially compared to the general state of the Russian medicine), has serious problems with providing adequate treatment to our constant patients, to speak nothing about out-patient treatment.

The existing domestic intravenous immunoglobulin is not cheap, although much cheaper than the foreign analog. However, the technology of its production is still somewhat worse than desired. So treatment with imported medicines is preferable for our patients.

The total amounts of immunoglobulins required cost thousands of dollars, and, of course, federal financing cannot provide such sums. Last year, about 60 percent of the total expenditures was covered by our sponsors and parents of our young patients.

On average, our needs are as follows. One vial of imported immunoglobulin, which is vitally important for our children, costs 260 USD. One child needs an average dose of 7.5 to 10 g per month, administered once a month. But some of our children need no less than 20 g of the medicine per month. Now our department takes constant care of 25 patients who need immunoglobulin substitution therapy each month. And 10 children arrive from time to time, about once in three months. Unfortunately, all of these children are from poor families, and their parents cannot buy such an expensive medicine.

We cannot say that we are favorites of the federal budget, but we hope that the situation will improve some time. And, of course, we hope that our sponsors will not forget us.