oa Current Allergy & Clinical Immunology - Severe combined immunodeficiency (SCID) - advances in molecular diagnosis, neonatal screening and long-term management : review article

Volume 21 Number 1
  • ISSN : 1609-3607



Severe combined immunodeficiency (SCID) is a rare but important disorder. A true paediatric emergency, patients who are diagnosed early and referred appropriately have an excellent prognosis. Although SCID was first diagnosed only approximately 50 years ago, there has been a wealth of new knowledge gained in this relatively short period of time. Much has been learnt about the genetic basis of the disease, early diagnosis soon after birth and finally definitive treatment through immune reconstitution. An early haematopoietic stem cell transplant with an HLA-identical donor has a survival approaching 95% and there have been encouraging results using gene therapy in adenosine deaminase (ADA)-SCID and Xlinked SCID.

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