Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome

Ilan Dalal, Diana Tasher, Raz Somech, Amos Etzioni, Ben Zion Garti, Dorit Lev, Sarit Cohen, Eli Somekh, Esther Leshinsky-Silver*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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 gene we detected two novel mutations: L454Q and 469. fs-4bpdel. In the RAG 2 gene: 3 novel mutations: D65Y, G157V, and E480X. One T-B- SCID patient was found to be a compound heterozygote for new mutations in the ADA gene: W264X and R235W. Prenatal diagnosis was performed in 8 families while others refused due to religious reasons. Identification of the new mutations expands our knowledge regarding the unique features of SCID phenotype in Israel and may help the families seeking for genetic counseling.

Original languageEnglish
Pages (from-to)284-290
Number of pages7
JournalClinical Immunology
Volume140
Issue number3
DOIs
StatePublished - Sep 2011

Keywords

  • ADA;
  • Omenn syndrome;
  • Prenatal diagnosis
  • RAG1/2;
  • T-B- SCID;

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