title: Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
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.
authors.affiliation: Pediatric Infectious/Allergy/Inmunology Unit, E. Wolfson Medical Center, Holon, Israel.
authors.forename: Ilan
authors.initials: I
authors.lastname: Dalal
authors.forename: Diana
authors.initials: D
authors.lastname: Tasher
authors.forename: Raz
authors.initials: R
authors.lastname: Somech
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Ben-Zion
authors.initials: BZ
authors.lastname: Garti
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Sarit
authors.initials: S
authors.lastname: Cohen
authors.forename: Eli
authors.initials: E
authors.lastname: Somekh
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
mesh_terms: D018912:Arabs / Q000235:genetics; D016026:Bone Marrow Transplantation; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000628:therapy
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein