Bubble Baby Disease

Last Updated on Dec 08, 2018
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What is Bubble Baby Disease?

Bubble baby disease (Severe Combined Immunodeficiency or SCID) is an inherited immune deficiency disorder in which there is a severe deficiency or absence of lymphocytes (a type of white blood cells) (alymphocytosis) which are needed for proper functioning of the immune system. As a result the children are extremely vulnerable to infectious diseases since birth.

It is known as bubble baby disease because the children are protected from infections in a separate sterile environment. Children often die from infections such as pneumonia, septicemia, chicken pox, oral candidiasis, meningitis, diarrhea and other infections within the first few months of life.

The children can also become very sick from the weakened live viruses and bacteria present in some vaccines.

What are the Causes of Bubble Baby Disease?

Bubble baby disease is inherited due to mutations in genes.

The most common form of inheritance is termed X-linked recessive. Boys are more commonly affected than girls. In this type of inheritance, the defective gene is present on the X chromosome. Boys (XY) inherit the defective gene on the X chromosome from their mothers who is a carrier (has defective gene without showing symptoms of the disease) but they suffer from the disease. Girls (XX) have one normal X chromosome and are protected from the disease and suffer from disease only if both X chromosomes carry the mutated gene.

The other form of inheritance is autosomal recessive inheritance in which both boys and girls are equally affected.

Rarely the disease affects a baby for the first time with no previous family history of the disease.

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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