Free Courses Sale ends Soon, Get It Now


BUBBLE BABY SYNDROME

3rd January, 2024

BUBBLE BABY SYNDROME

Copyright infringement not intended

Picture Courtesy: www.tinkerchild.com

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.

PRACTICE QUESTION

Q. What is the primary cause of Bubble Baby Syndrome (Severe Combined Immunodeficiency - SCID)?

A) Viral Infection

B) Bacterial Infection

C) Genetic Mutation

D) Environmental Exposure

Answer: C

Explanation:

Bubble Baby Syndrome is primarily caused by a genetic mutation affecting the development of T cells and B cells in the immune system. Therefore, the correct answer is (c) Genetic Mutation.