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Context: A two-month-old girl from Karnataka was diagnosed with 'bubble baby syndrome'.

Bubble Baby Syndrome

• Bubble baby syndrome, also known as severe combined immunodeficiency (SCID), is a rare genetic disorder affecting newborns, where functional T cells and B cells, crucial components of the immune system, are absent.

Symptoms and Characteristics

• Lack of symptoms at birth, with recurrent infections emerging within months.
• Infections can affect various organs, including the lungs, skin, digestive tract, and nervous system.
• Common signs include poor weight gain, chronic diarrhoea, oral thrush, pneumonia, ear infections, skin rashes, and meningitis.

Treatment

• Bone Marrow Transplant (BMT): The only cure involves replacing defective stem cells with healthy ones from a compatible donor, restoring normal immune function.
  • Donors can be siblings, unrelated individuals with a similar tissue type, or umbilical cord blood.
  • Success depends on factors like donor availability, timing, and potential complications (e.g., graft-versus-host disease).
• Gene Therapy: An experimental approach correcting the defective gene in stem cells using a modified virus. Explored for certain SCID types but carries risks like cancer development or immune responses against the virus.

Diagnosis

• Blood tests for T cells, B cells, antibodies, and specific gene mutations.
• Early diagnosis is crucial, and newborn screening (mandatory in some countries) enables detection before symptoms manifest.

Conclusion

• Bubble baby syndrome demands swift medical attention and intervention. Awareness and continued research aim to enhance the understanding and management of SCID, offering affected children and their families a path toward a healthier and more fulfilling life.

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