DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Genetic Disorder

Severe Combined Immunodeficiency (SCID)

HIGH SEVERITY

A group of genetic disorders causing profound defects in both cellular and humoral immunity. 'Bubble boy disease' - affected infants lack functional T cells and B cells, making them vulnerable to severe infections. Medical emergency requiring immediate intervention.

Global Affected

15.0K

Countries

15

Symptoms

Recurrent severe infections
Failure to thrive
Chronic diarrhea
Oral thrush
Pneumonia
No thymic shadow on X-ray
Low lymphocyte count

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with early transplant. Untreated: death by age 1-2 from infection. Transplant survival 90%+ if done before infections. Gene therapy curative in trials.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Hematopoietic stem cell transplant curative if done early. Gene therapy successful for X-linked and ADA-SCID. Newborn screening now standard in many countries. Antibiotics, IVIG, and isolation until transplant.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNetherlandsSwedenNorwayDenmark

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.