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Severe Combined Immunodeficiency (SCID) and Its New Treatment Modalities

Akshad M Wadbudhe1, Revat J Meshram1, Shivangi C Tidke1

  • 1Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Cureus
|November 29, 2023
PubMed

Insights

Severe combined immunodeficiency (SCID) is a rare genetic disorder impairing the immune system, leading to severe infections. Early diagnosis and advanced treatments like gene therapy offer improved survival rates for affected infants.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a rare, life-threatening genetic disorder characterized by a severely impaired immune system.
  • Caused by genetic mutations, SCID leaves infants vulnerable to opportunistic infections, often presenting with symptoms like respiratory and meningeal infections.
  • Historically known as "bubble boy disease," SCID requires prompt medical intervention due to high mortality rates.

Purpose of the Study:

  • To provide a comprehensive overview of severe combined immunodeficiency (SCID).
  • To discuss the challenges in diagnosing SCID due to its genetic complexity.
  • To review the latest advancements in SCID treatment modalities.

Main Methods:

  • This is a narrative review article.
  • Information was gathered from existing literature on SCID.
  • Focus is on describing the condition and its evolving treatments.

Main Results:

  • SCID diagnosis has improved significantly due to advanced newborn screening, enabling detection within three months of age.
  • Despite genetic complexity complicating diagnosis, newer monitoring systems enhance early identification.
  • Mortality rates have decreased with earlier diagnosis and improved treatment options.

Conclusions:

  • Early diagnosis of SCID is crucial for improving infant survival rates.
  • Hematopoietic stem cell transplantation, gene therapy, enzyme replacement therapy, and chemotherapy are key treatment strategies.
  • Continued research and advancements in screening and treatment are vital for managing SCID effectively.

Keywords:
autosomalenzyme replacement therapy (ert)gene mutationgene-replacement therapyhemato-immunological biomarkershematopoietic stem cell transplantimmuno-chemotherapyx-linked genetic diseases

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