Severe combined immune deficiency : Treatment

Basic principles of general and specific treatment for SCID.

General treatment

Children with this life-threatening condition need maximum support and love, which are only capable parents.They will have to move multiple hospitalizations, sometimes associated with the implementation of painful procedures.

Patients should mobilize all its internal strength to cope with anxiety and stress that are associated with this debilitating disease.They must have a well developed and effective mechanisms to deal with this state and use the help of support groups.

Parents assisting patients with SCID, it may take as much time and energy.If a family has any brothers or sisters, parents should remember that they too need to pay part of love and care.Parents also need a lot of effort to maintain relations with each other.If the stress caused by the disease and the treatment of the child, destroys the family, a successful treatment outcome is incomplete victory.

child first year of life, SCID patient should be iso

lated from other children outside the family, especially young children.If a brother or sister attending day-care institutions, Sunday schools, kindergartens and primary schools, the greatest danger is the possibility of skidding in Windmill House.

Fortunately, this risk is greatly reduced due to the widespread use of the chickenpox vaccine (Varivax).However, parents should report this danger to the school, to be notified of the presence of chicken pox at school.If a brother or sister vaccinated against chickenpox or have already had it, there was no danger.If a brother or sister had close contact with sick chicken pox or been vaccinated previously or were moved chickenpox, they have to live in another house during the incubation period (11 to 21 days).Close contact with the brothers or sisters sick with chickenpox is sitting at a table reading, sharing food or play with a child who has chickenpox occurred within 72 hours after contact.

If chickenpox occurred to a brother or sister in finding the home and contact with the patient, the patient should immediately get protivovetryanochny immune globulin (VZIG) or immunoglobulin replacement therapy.If despite this SCID patient will develop chickenpox, the patient should be administered acyclovir in the hospital for 5-7 days.

Children vaccinated with live counterfield-poliomyelitis vaccine, can release a live virus, which is a danger to the child with SCID.Therefore, children in contact with the patient (such as siblings) should receive the killed polio vaccine.Usually not necessary to take a child with SCID, in public places (day care for a child, church child care, doctors' offices, etc.) where possible contact with other young children - carriers of infection.It should also limit contact with family members, especially having young children.In the house there is no need for special procedures for isolation or wearing masks or gloves.However, it is extremely important frequent hand washing.

Although there is no special requirements to the diet, nutrition plays a very important role.In some cases, the child with SCID impaired food intake, which can lead to malnutrition.As a result, sometimes a child may need during intravenous administration of nutrients to maintain normal nutrition.

Sick children generally decreased appetite, so to maintain a sufficient level of power by conventional means can be difficult.In this syndrome, registered frequent deaths from infections caused by Pneumocystis jiroveci, a widespread organism which rarely causes disease in normal people, but it is the causative agent of pneumonia in patients with SCID.Pneumonia caused by this organism can be prevented prophylactic administration of trimethoprim-sulfamethoxazole.All infants with SCID should receive this preven-matic treatment to correct a defect of T cells.

DANGER introduction of vaccines made from live viruses, AND transfusion of non-irradiated blood or platelets.

If you or the doctor suspect that your child has severe immune deficiency should not prevent vaccination against rotavirus, chickenpox, mumps, measles, poliomyelitis live vaccine or BCG to determine the status of the child's immunity.

As indicated above, the patient's siblings should not receive live counterfield-poliomyelitis vaccine or new protivorotavirusnuyu vaccine.If a brother or sister of the patient receive vaccines prepared from other live viruses, the probability of selection of these viruses and their transmission to the patient is very small.As an exception, the introduction of the chickenpox vaccine if the sibling occurred rash with blisters.

If a child is the first year of life with SCID needs a blood transfusion or platelet count, should be applied irradiated (containing cytomegalovirus and leukocyte-depleted) blood or platelets.These precautions are necessary to avoid lethal phase reaction of tissue incompatibility due to the presence in the preparation of blood T cells, as well as for the prevention of CMV infection of the child.

Specific treatment

immunoglobulin replacement therapy (IVIG) should be assigned to the child with SCID in the age of more than 3 months and / or have already suffered a infection.Although immunoglobulin therapy will not restore the function of the defective T cells, it makes up for the lack of antibodies associated with a defect in the cells, and thus will have some beneficial effect.

For the treatment of patients with SCID is caused by a deficiency of ADSs, with some success used replacement therapy modified form of the enzyme (bovine enzyme, called PEG-ADA).Recovery of immunity which occurs when administered PEG-ADA, does not mean a permanent cure;until the end of the life of the child is required to make two weekly subcutaneous injections.

not recommended to apply the enzyme treatment PEG-ADA, if the patient has an HLA-matched sibling who can be a donor of bone marrow.

most successful treatment for SCID is immune reconstitution by bone marrow transplantation.bone marrow transplant patient of SCID is best performed at medical centers that have experience in the proper treatment of this disorder, which employ pediatricians, immunologists to monitor the graft.When P

bone marrow transplantation, bone marrow cells taken from a normal donor and the patient is administered with their violation immunity to replace defective cells of the patient's normal donor lymphocyte immune system.The goal of transplantation in SCID -Correction immunity disorders.This differs from the transplantation for cancer patients, whose aim is to destroy cancer cells, and which uses high doses of drugs which depress the immune system.The ideal donor for a child with SCID is completely HLA-matched healthy child - a brother or sister.

the absence of such a donor is possible to use techniques developed over the past three decades and ensure good success with incomplete compatibility of donor-relatives (eg mother or father).Usually there is no need for chemotherapy prior to transplantation.

Over the past 30 years have been performed hundreds of bone marrow transplants for children with SCID, and the overall survival rate of 60-70%.However, the best results are obtained by grafting from a compatible donor (a brother or sister, the success of more than 85%), as well as transplant shortly after birth and until the age of 3.5 months (more than 96% survival, even in the case of partial compatibility).

For the treatment of SCID is also successfully applied transplant HLA-matched bone marrow or cord blood from unrelated-donor.

transplantation of bone marrow stem cells in utero has no obvious advantages over transplantation, performed immediately after birth.

In addition, it may be impossible to use the mother as a donor since anesthesia may damage the fetus, the procedures may be accompanied by risk for both the mother and the fetus, and there is no possibility of recognition of the reaction of tissue incompatibility.

Finally, over the past two decades has been investigated another method of treatment - gene therapy.We describe the cases of successful application of gene therapy as an X-linked and ADA-deficient SCID.However, research in this area continues to improve the safety of this treatment.Gene therapy can be used only after the definition of the damaged gene, and therefore the molecular diagnostic techniques become important.


syndrome of severe combined immune deficiency is usually considered the most serious of the primary immunodeficiencies.Without a successful bone marrow transplant or gene therapy, the patient has constantly the risk of severe or fatal infections.

After a successful bone marrow transplant patient's own defective immune system is replaced with a normal immune system and restores normal function of T lymphocytes.The first bone marrow transplantation patient with SCID was performed in 1968.This patient is still alive and feeling good!

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