Severe combined immunodeficiency (SCID)

Definition

Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by the severe impairment or absence of functional T and B lymphocytes. This results in extreme vulnerability to infections from infancy.

5 Must Know Facts For Your Next Test

1. SCID is often referred to as 'bubble boy disease' due to the need for extreme protective measures against infection.
2. The condition is usually detected through newborn screening, which identifies low levels of T-cell receptor excision circles (TRECs).
3. Without treatment, such as hematopoietic stem cell transplantation, SCID is usually fatal within the first year of life.
4. Mutations in various genes, including IL2RG, ADA, and RAG1/RAG2, can lead to different forms of SCID.
5. Gene therapy has emerged as a promising treatment option for some types of SCID.

Related terms

Primary Immunodeficiency: A disorder where part of the body's immune system is missing or does not function properly.

Hematopoietic Stem Cell Transplantation:

A medical procedure used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells.

Gene Therapy:

An experimental technique that uses genes to treat or prevent disease by inserting a gene into a patient's cells instead of using drugs or surgery.