Severe combined immunodeficiency in children: possible causes, symptoms and treatments

Severe combined immunodeficiency (SCID) is a disease that is known as the syndrome of the boy in the bubble, because sick people are very vulnerable to infectious diseases and must remain in a sterile environment. This disease is the result of severe damage in the immune system, so the latter is considered to be virtually absent.

This is a disease that belongs to the category of primary immunodeficiency and is due to multiple molecular defects leading to the fact that disrupts the function of T-cells and b-cells. Sometimes disrupts the function of the killer cells. In most cases the diagnosis is made in under 3 months from birth. Without the help of doctors, such a child will very rarely be able to live more than two years.

About the disease

Every two years by experts from the world health organization very carefully reviewed the classification of this disease and is consistent with modern practices relating to immune system disorders and immunodeficiency States. Over the last few decades they have been allocated eight classifications of the disease.

Severe combined immunodeficiency is fairly well-studied in the world, and yet the survival of children is not very high. Here is important accurate and specific diagnosis, which will take into account the heterogeneity of the pathogenesis of immune disorders. However, it is often done or incomplete, or late, very late.

The Typical infections and diseases of the skin - the most common symptoms of severe combined immunodeficiency. The reasons will be discussed below. How precisely they help in diagnosis in children.

Given that in recent years, advances in gene therapy and possible bone marrow transplant has leaped forward, patients with SCID have a good opportunity to develop a healthy immune system and, as a consequence, the hope for survival. But still, if rapidly developing a serious infection, the prognosis is often unfavorable.

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Causes

The Main cause of severe combined immunodeficiency is a mutation at the genetic level, as well as the syndrome of “naked” lymphocytes, failure of molecules tyrosine kinase.

These reasons include infections such as hepatitis, pneumonia, parainfluenza, cytomegalovirus, respiratory syncytial virus, rotavirus, enterovirus, adenovirus, herpes simplex virus, varicella, Staphylococcus aureus, enterococci and streptococci, Pseudomonas aeruginosa. Predisposition also cause fungal infections: biliary and renal candidiasis, Candida Albicans, Legionella, Moraxella, Listeria.

Many of those pathogenic factors are also present in the body completely healthy person, but the formation of adverse conditions may occur a situation when the protective properties of the organism will decrease, which in turn will trigger the development of immunodeficiency States.

Aggravating factors

What may provoke severe combined immunodeficiency? The presence of patients with maternal T-cells. This circumstance can cause redness of the skin with T-cell infiltration, increased number of hepatic enzyme. Inadequately the body can react to the wrong bone-marrow transplant, blood transfusion, characterized by parameters. Signs of rejection include: the destruction of the biliary epithelium, necrotic erythroderma on the intestinal mucosa.

In past years newborn children were vaccinated with vaccinia virus. In this regard, children with severe immunodeficiency States died. To date, the BCG vaccine, which contains in its composition of Bacillus Calmette-guérin, used throughout the world, but it is often the cause of death of children with this disease. Therefore, it is important to remember that the SCID patients is strictly prohibited live vaccines (BCG, varicella).

Basic forms

Severe combined immunodeficiency in children – a disease characterized by the imbalance of T - and b-cells, resulting in the reticular dysgenesis.

This is a quite rare pathology of the bone marrow, which is characterized by a decrease in the number of lymphocytes and complete absence of granulocytes. For the production of red blood cells and megakaryocytes, it has no effect. This disease is characterized by underdevelopment of secondary lymphoid organs, also is a very severe form of SCID.

The Reason for this dysgenesis is the inability of granulocyte precursors to form healthy stem cells. Therefore, the distorted function of hematopoiesis and bone marrow, the blood cells are not doing their job, accordingly, the immune system cannot protect the body from infections.

Other forms

Other forms of SCID include:

• Deficiency of alpha-1 antitrypsin. The lack of T-cells, and, as a consequence, the lack of activity in b-cells.
• Deficiency of adenosine deaminase. The lack of this enzyme can lead to excess accumulation of toxic products of metabolism within thelymphocytes that causes cell death.

• Deficiency of gamma chain T-cell receptor. It is caused by a gene mutation on the X chromosome.
• Deficiency of Janus kinase-3, CD45 deficiency, deficiencies of CD3 chains (combined immunodeficiency, which causes mutations in the genes).

Among physicians are of the opinion that there is a group of unrecognized immunodeficiency.

Causes and symptoms of severe combined immunodeficiency are often interconnected.

However, there is still a number of rare genetic diseases of the immune system. This combined immunodeficiencies. They have less severe clinical manifestations.

Patients with this form of deficit helps bone marrow from relatives, and from foreign donors.

Manifestation of disease

These States are characterized by the following manifestations:

• Severe infections (meningitis, pneumonia, sepsis). Thus for a child with a healthy immune system they may not pose a serious threat, whereas a child with severe combined ID (TCID) are in mortal danger.
• Manifestations of inflammation of the mucous membranes, lymph node enlargement, respiratory symptoms, cough, wheezing.
• Impaired renal function and liver, skin lesions (redness, rash, sores).
• Thrush (a fungal infection of the genitals and the mouth); symptoms of allergic reactions; enzyme disorders; vomiting, diarrhea; bad blood test results.

Diagnosing severe immunodeficiency at present is becoming more difficult, as very wide spread use of antibiotics, which in turn as a side effect tend to change the nature of disease.

Treatment of severe combined immunodeficiency presented below.

Treatment

As the method of treatment of such severe immunodeficiencies lies a bone marrow transplant, other treatments, virtually ineffective. It is necessary to consider the age of the patients (from birth to two years). The children definitely need to pay attention, to show them love, affection and care to create comfort and positive psychological climate.

Family Members and relatives should not only support such child, but also to keep within the family friendly, sincere and warm relationship. Isolation of sick children is unacceptable. They should be at home, within the family, while receiving the necessary supportive treatment.

Admission

Admission to hospital is required in the presence of severe infections or if the child's condition is unstable. Be sure to avoid contact with family members who have had recent chickenpox or any other viral diseases.

You must Also comply with the rigor of the rules of personal hygiene of all family members near the baby.

Stem cells for transplantation is derived primarily from the bone marrow, but in some cases for this purpose may be suitable umbilical cord blood and peripheral even from related donors.

The Ideal is a brother or sister of a sick child. But to be successful a transplant and “associated” donor, that is, mother or father.

What are the statistics?

According to statistics (last 30 years) the overall survival rate of patients after surgery is 60-70. More chances of success in that case, if the transplant is carried out in the early stages of disease development.

This kind of Operation should be carried out in specialized medical institutions.

So, the article was considered severe combined immunodeficiency in the child.