SCIDNachweisScreening

SCIDNachweisScreening refers to the screening for Severe Combined Immunodeficiency (SCID). SCID is a rare genetic disorder characterized by a severely weakened immune system, making individuals highly susceptible to infections. Early detection and treatment are crucial for survival. SCIDNachweisScreening is a diagnostic process employed to identify newborns who may have SCID.

The screening typically involves a blood test. A small sample of blood is collected from the infant, usually from a heel prick, shortly after birth. This blood sample is then analyzed for specific markers that indicate the presence of SCID. One common method involves measuring the levels of T-cell receptor excision circles (TRECs). TRECs are byproducts of T-cell development, and their absence or very low levels can suggest a defect in T-cell production, a hallmark of SCID.

If the initial screening test yields an abnormal result, further confirmatory tests are conducted. These more detailed diagnostic procedures, such as flow cytometry to analyze lymphocyte populations, genetic testing to identify specific gene mutations, and lymphocyte proliferation assays, are performed to confirm the diagnosis of SCID. A confirmed diagnosis allows for prompt initiation of treatment, which often involves hematopoietic stem cell transplantation or gene therapy, to restore immune function. SCIDNachweisScreening programs have significantly improved the prognosis for infants born with this life-threatening condition.