Severe Combined Immunodeficiency (SCID)

Full automated solution from automatic sample preparation to interpretation with a dedicated interpretation software
The assay consists of two main steps:

• The first step involves an extraction process, which includes the addition of two buffers and an incubation step. This step can be automated using the NEO-M-300 by Hamilton system.
• The second step focuses on DNA amplification through qPCR. During this phase, detection is achieved using Texas Red and FAM fluorochromes, which respectively detect TREC copy numbers and the housekeeping gene RPP30.

GeneFoxCub’s advanced automated software enables the detection of SCID in patients by performing semi-quantitative analysis of TREC copy numbers.

Severe Combined Immunodeficiency (SCID) is a group of rare and life-threatening genetic disorders that results from mutations in different genes involved in the development and function of the immune system. These genetic defects impair the production and function of T-cells, B-cells, or both, leading to a severely compromised immune response. Infants with SCID may appear healthy at birth, but their immune system is highly vulnerable to severe and recurrent infections. Without early diagnosis and treatment, these infections can quickly escalate, leading to life-threatening complications.

SCID is typically caused by mutations in key genes such as IL2RG, ADA, RAG1, RAG2, and others, which play critical roles in the immune system’s development. In most cases, the condition is characterized by a complete or near-complete absence of functional T-cells, and sometimes B-cells, leaving affected individuals with little to no ability to mount an effective immune response.

If left untreated, SCID can be fatal within the first year or two of life. However, with prompt and appropriate treatment, outcomes can significantly improve. The most effective treatment options for SCID include:

• Bone Marrow Transplantation (BMT): This is the gold-standard treatment, where healthy blood-forming stem cells from a matched donor are transplanted into the patient to restore the immune system.
• Gene Therapy: An emerging and promising alternative, where corrective genes are introduced into the patient’s own cells to help restore immune function.
• Enzyme Replacement Therapy (ERT): Sometimes used for specific forms of SCID, depending on the underlying genetic cause.

Newborn screening for SCID has become increasingly widespread, allowing early detection of the disorder and enabling timely treatment to prevent life-threatening infections. Early diagnosis through newborn screening programs plays a critical role in improving outcomes and saving lives.