What is primary immunodeficiency

Imagine that you can not hug and kiss your baby without washing your hands for three minutes, and not wearing a special suit.Imagine that the first time he saw the world through the window of the hospital room.Imagine that your child for six months does not live at home and in the hospital ..

Primary immunodeficiency - a terrible diagnosis, which means that a child born without natural protection.He absolutely can not resist infections, and that for us is a world around you, for him - a source of danger every minute.

Primary immunodeficiency is a congenital disorders of the immune system, which develop due to genetic disorders.The disease leads to severe chronic infection and inflammation of the organs and tissues.Without treatment, children with primary immunodeficiency die from a variety of infectious complications.

Today opened more than 170 species such violations, which occur in about one patient per 10 thousand people, but their actual prevalence may be as high as a 1:. 500.

According to leading Russian immunologists, 90% of patients with primary immuno-deficiency die undiagnosed in Russia.

on the National Register, established in 2000 on the basis of our hospital, a little more than 700 patients in the register of the Institute of Immunology of the same amount, although, according to Head of the evaluation.Department of Clinical Immunology IV Kondratenko expected to date the actual number of patients may sostavit15000 man in Russia.Despite improvements in the diagnosis of conditions in the region in recent years, children often give incorrect diagnoses, and many of them, especially babies with severe immunodeficiency states, dying at the age of 2-4 months.

Primary symptoms of congenital immunodeficiency may not be detected because it does not have unique features.

It may appear as "normal recurring infection," such as the nose, ears or lungs.There may be gastrointestinal problems, or inflammation of the joints.Parents and doctors often do not realize that these problems are created by genetic defects in the immune system.Infections become chronic, creating complications, the patient "not responding" in the ordinary course of antibiotics.Severe forms of primary immunodeficiency usually occur immediately after birth, or shortly after it.

If the doctor suspected primary immunodeficiency, is to accurately identify the type of pathology is carried out a number of complex immunological and genetic analyzes - it helps to determine violations of the immune defense (cellular or humoral), and to determine the type of mutation that caused the disease.

important to understand that primary immunodeficiency - is not AIDS (acquired immunodeficiency syndrome).

Although both type of immune deficiency affects the immune system, primary immune deficiency is a genetic disease, a kind of "integrated" into the human body of its genes.This is similar to the color of your eyes: you can not change it.Acquired immune deficiency (AIDS) is an infectious disease and is caused by a virus.

treatment of primary immunodeficiencies - a difficult task.To assign complex treatment is required to establish an accurate diagnosis with certain disorders of the immune level of protection.In large urban hospital patients examined at the recommended clinical criteria, conducted immunological screening followed by refinement of the diagnosis in the Department of Clinical Immunology of the Russian Children's Clinical Hospital Medical University.

With a lack of immunoglobulin spend a lifetime replacement therapy serum containing antibodies or normal donor plasma.When an infection is prescribed antibiotics, antiviral and antifungal agents.

Full immunological reconstruction in children with severe primary immunodeficiency occurs only in bone marrow transplantation.This means that the successful operation formed own immune system of the child.

Prenatal diagnosis and genetic counseling.

Today found that many immunodeficiencies are hereditary diseases: type of inheritance is known, revealed the localization of the defective gene, the gene product is defined.STANOVOI clear that primary immunodeficiency - not as rare a condition as it has been considered.Parents and relatives of children with PID should be aware that at the present time, it became possible to identify carriers of the defective gene and genetic counseling of families planning to birth of children to the risk of PID.For example, the identification of one of the worst diagnoses PID severe combined immune deficiency (diagnosis, which is 100% fatal without a bone marrow transplant) is possible until the child's birth, if the family already has a sick child, and, if the detected molecular defect.If the previously born child patient carried a mutation analysis can be performed a diagnostic study of the unborn baby (embryo or fetus with amniotic tissue).This can be done by molecular analysis of chorionic cilia or amniotic fluid containing fetal cells and obtained from the uterine cavity by amniocentesis.

article is provided by a charitable foundation to help children with impaired immunity "Sunflower".

spelling and syntax of the source maintained at a reprint.

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