Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn.

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Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome by Barbara Corneo, Despina Moshous, Tayfun Güngör, Nicolas Wulffraat, Pierre Philippet, Françoise Le Deist, Alain Fischer, and Jean-Pierre de Villartay Blood Volume 97(9):2772-2776 May 1, 2001 ©2001 by American Society of Hematology

Structure of the human RAG1 protein and localization of missense mutations causing OS.Mutations are from Villa and colleagues38 (black on gray), Wada and coworkers39 (white on black), and this report (black on white). Structure of the human RAG1 protein and localization of missense mutations causing OS.Mutations are from Villa and colleagues38 (black on gray), Wada and coworkers39 (white on black), and this report (black on white). All the mutations are located within the active core (amino acids 384-1009) of the protein and some of them involve the homeodomain or one of the RAG2 interaction domains.49 Many of the mutations map close to the 3 acidic residues (DDE) defining the catalytic site of RAG1. Barbara Corneo et al. Blood 2001;97:2772-2776 ©2001 by American Society of Hematology

Western blot analysis of RAG1 mutants Western blot analysis of RAG1 mutants.The wt and RAG1 mutants were expressed in 293T cells and revealed by Western blot using an anti-myc antibody. Western blot analysis of RAG1 mutants.The wt and RAG1 mutants were expressed in 293T cells and revealed by Western blot using an anti-myc antibody. Barbara Corneo et al. Blood 2001;97:2772-2776 ©2001 by American Society of Hematology