Article
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
Clinical immunology (Orlando, Fla.) - 1 Sept 2011
Dalal Ilan, Tasher Diana, Somech Raz, Etzioni Amos, Garti Ben-Zion, Lev Dorit, Cohen Sarit, Somekh Eli, Leshinsky-Silver Esther
Abstract excerpt
The relative frequency of the different forms of SCID may vary in different countries. The most frequent form in Israel is the autosomal-recessive T-B- SCID or Omenn syndrome while X-linked SCID is rare. We report our immunological and genetic analyses in multicentre study of patients presenting with either T-B- SCID or Omenn syndrome. Among 16 patients, we identified 7 novel mutations in 6 patients. In the RAG1...
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