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Diagnosis, Treatment and Prevention of Bubble Baby Disease

Last Updated on Dec 08, 2018
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How do you Diagnose Bubble Baby Disease?

  • By taking a complete medical history and physical examination of your child. Babies with recurrent bacterial, viral, or fungal infections that do not respond favorably to treatment is highly suggestive of bubble baby disease
  • Blood tests to measure the number of lymphocytes
  • Genetic testing: This is done prenatally when the baby is in the womb via amniocentesis or chorionic villus sampling (CVS), especially if there is another child in the family who has been identified with SCID or in neonates.
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How do you Treat Bubble Baby Disease?

  • Antibiotics are used to prevent and treat infections. For active infections, aggressive antibiotic, antifungal, and antiviral medicines are used
  • Keep the child in an isolation sterile environment in the hospital
  • Intravenous immune globulin (IVIG): This provides the body with antibodies which are required by the body to help fight infections
  • Bone Marrow Transplant (BMT): Stem cells which are found in the bone marrow and from which all types of blood cells develop are introduced into the childís body to rebuild the immune system
  • Hematopoietic stem cell transplant: In this case stem cells are collected from the donorís bloodstream instead of the bone marrow. The result of transplant depends on the graft versus host response
  • Gene therapy: It is still in the trial stages
  • Enzyme replacement therapy (ERT): This is useful in cases of SCID which are caused by a shortage of an enzyme called adenosine deaminase (ADA).
Bubble Baby Disease Treatment

How to Prevent Bubble Baby Disease?

  • Prenatal or neonatal genetic testing should be done if there is another child with a similar genetic defect in the family
  • Early blood testing of newborn infants
  • Hematopoietic or bone marrow stem cell transplant (HSCT) surgery to be performed preferably within the first three months of life
  • Have the child wear a mask
  • Avoid immunization of the child with vaccines containing live viruses such as measles, mumps, and rubella (MMR) vaccine and chickenpox vaccine
  • Blood transfusions to be given only with blood that has been irradiated to kill white blood cells.

References:

  1. About Severe Combined Immunodeficiency - (https://kidshealth.org/en/parents/severe-immunodeficiency.html)
  2. Severe Combined Immune Deficiency and Combined Immune Deficiency - (https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/severe-combined-immune-deficiency-and-combined-immune-deficiency)
  3. Severe combined immunodeficiency - (https://www.chw.org/medical-care/immune-deficiency/immune-disorders/severe-combined-immunodeficiency)
  4. Severe Combined Immunodeficiency (SCID) - (https://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/severe-combined-immunodeficiency)
  5. National Institute of health- Severe combined Immunodeficiency - (https://rarediseases.info.nih.gov/diseases/7628/severe-combined-immunodeficiency)
  6. National Genome Research Institute- Learning about severe combined immunodeficiency (SCID) - (https://www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/)
  7. Hematopoietic stem cell transplantation - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781735/)

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