Bubble boy disease

Bubble Boy Disease or Severe Combined Immunodeficiency (SCID) is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells, caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response to bacteria, viruses, and fungi, leading to repeated and persistent infections that can be very serious or life-threatening. These infections are usually severe and can involve the skin, respiratory system, gastrointestinal tract, and other systemic infections.

History

The term "Bubble Boy Disease" comes from the case of David Vetter, a boy from Texas born in 1971 with SCID. He lived in a sterile environment or "bubble" to avoid exposure to pathogens. His case brought significant attention to the disease and led to advancements in the understanding and treatment of SCID.

Causes

SCID is caused by mutations in different genes involved in the development and function of immune cells. It is inherited in an autosomal recessive or X-linked recessive manner. The most common type is X-linked SCID, which is caused by mutations in the IL2RG gene.

Symptoms

Symptoms of SCID typically present in infancy and include recurrent severe infections, failure to thrive, and persistent thrush or skin rashes. Children with SCID are particularly susceptible to opportunistic infections that do not normally cause illness in individuals with a healthy immune system.

Diagnosis

Diagnosis of SCID involves blood tests to assess lymphocyte counts, and specific antibody responses to vaccines. Genetic testing can identify the specific gene mutation causing the condition.

Treatment

The primary treatment for SCID is hematopoietic stem cell transplantation (HSCT), which can provide a source of healthy immune cells. Gene therapy is also a potential treatment option for certain types of SCID.

See also

• Primary immunodeficiency
• Immunology
• Gene therapy