Severe Combined Immunodeficiencies (SCID)

Understanding Severe Combined Immunodeficiency (SCID)

Severe Combined Immunodeficiency (SCID) is a rare, life-threatening genetic disorder characterized by the absence or severe dysfunction of T cells, B cells, and sometimes NK cells. This results in an extremely weakened immune system, leaving individuals highly susceptible to severe, recurrent infections, failure to thrive, and early mortality if untreated. SCID is often referred to as “bubble boy disease” due to the stringent infection control measures required to protect affected individuals.

SCID is caused by genetic mutations that disrupt lymphocyte development, with the most common type being X-linked SCID (X-SCID), which primarily affects boys.

Common Signs and Symptoms of SCID:

• Recurrent Severe Infections: Frequent infections caused by bacteria, viruses, fungi, or opportunistic pathogens.
• Failure to Thrive: Poor growth and weight gain in infants despite adequate nutrition.
• Chronic Diarrhea: Ongoing digestive issues that can contribute to malnutrition.
• Persistent Respiratory Problems: Recurrent pneumonia or other respiratory infections.
• Delayed Development: In some cases, developmental delays may be observed due to frequent illness.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.