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Hot Topics in Severe Combined Immunodeficiency (SCID)

  • Sofia D’Elios,
  • Mario Milco D’Elios,
  • Nagaja Capitani

摘要

Severe combined immunodeficiency (SCID) is the most severe primary immune deficiency, consisting of a heterogeneous group of genetic defects affecting the immune system development and function. The overall frequency is estimated to 1 in 40,000 to 75,000 newborns and despite it is a prenatal disorder, frequently SCID is observed in the first few months of life. In this chapter, we give an overview of the main genes affected as well as the new frontiers in SCID treatment.