How is the diagnosis of severe combined immunodeficiency made?
Diagnosis of SCID is suspected by depicting low lymphocytes in the blood (usually lymphocytes are more than 4000/cumm but in SCID they are less than 1500/cumm). Diagnosis is confirmed by demonstrating low T-lymphocytes. The number of B-cells and NK cells help to classify SCID as T- B- or T-B+ SCID. The most definitive test is to examine the function of T-lymphocyte which is depressed in SCID. Immunoglobulin levels are also low in SCID.

Are there genetic tests available to diagnose severe combined immunodeficiency?
Genetic tests are available to detect specific mutation causing SCID. This helps to determine chances of recurrence in other children and whether only boys will be affected or both boys and girls will be affected.

Is prenatal diagnosis possible for severe combined immunodeficiency?
Prenatal diagnosis for SCID can be done provided the genetic mutation causing SCID is known in a previously affected child in the family. Then in current pregnancy, chorionic villus sampling or amniocentesis can be done and checked whether the fetus has the same mutation or not. In case of SCID affecting only boys, if the current fetus is a female, then she would not be affected. In case of SCID due to ADA deficiency, ADA levels can be checked in the amniotic fluid or chorionic villus cells and ADA deficiency can be ruled in or out.

What is the treatment of severe combined immunodeficiency?
SCID is a potentially fatal condition and bone marrow transplant (BMT) or gene therapy should be considered in these patients. Infact, this disease is also called as bubble boy disease based on a boy who stayed in a plastic covered sterile environment to prevent infections. The child finally succumbed to his disease at 12 years of age. Without a bone marrow transplant, most patients succumb to a serious infection by 2 years of age.

In case BMT is not possible, immunoglobulin replacement therapy. should be given for infants more than 3 months of age. For patients with SCID due to ADA deficiency, a modified form of enzyme (called PEG-ADA) can be given as replacement as 2 subcutaneous injections per week lifelong. Gene therapy is an emerging therapy for patients with SCID. Patients with SCID should be on Cotrimoxazole antibiotic to prevent PCP.

Infections should be treated aggressively and urgently. Patients with SCID should avoid contact with young children outside the family as they could pass infections. Siblings should receive chickenpox vaccine and injectable polio vaccine (not oral polio vaccine as they excrete live virus which could be dangerous to a patient with SCID). Siblings should also not receive rotavirus vaccine.

Children with SCID should avoid overcrowded public places.

What precautions should be taken in a patient with severe combined immunodeficiency (SCID)?
A patient with SCID should not receive any live vaccines such as rotavirus vaccine, chickenpox vaccine, mumps vaccine, measles vaccine, oral polio vaccine or BCG vaccine. If the patient requires a blood transfusion, then irradiated (CMV-negative, leukocyte-depleted) blood should be given to prevent graft versus host disease due to T-cells in donor blood.

How does bone marrow transplantation cure severe combined immunodeficiency?
In a BMT, bone marrow cells from donor replace lymphocytes in the patient. The ideal donor is a perfectly matched immuno-competent brother or sister.

Last updated on 26-3-2011