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Related Collections Immunobiology Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 May 2001, Vol. 97, No. 9, pp. 2772-2776 IMMUNOBIOLOGY 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 Barbara Corneo, Despina Moshous, Tayfun Güngör, Nicolas Wulffraat, Pierre Philippet, Françoise Le Deist, Alain Fischer, and Jean-Pierre de Villartay From the Dèveloppement Normal et pathologique du Système Immunitaire, Hôpital Necker Enfants Malades, Paris, France; Division of Immunology/Haematology, University Children's Hospital, Zurich, Switzerland; Pediatric Immunology, Children's Hospital, Utrecht, The Netherlands; and Division of Pediatric, Immuno-hematology, C. H. St Joseph-Espèrance, Montegnèe-Liège, Belgium. Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin and the intestine by activated oligoclonal T lymphocytes, indicating that a profound defect in the lymphoid developmental program could be accountable for this condition. Inherited mutations in either the recombination activating genes RAG1 or RAG2, resulting in partial V(D)J recombinase activity, were shown to be responsible for OS. This study reports on the characterization of new RAG1/2 gene mutations in a series of 9 patients with OS. Given the occurrence of the same mutations in patients with T-B-severe combined immune deficiency or OS on 3 separate occasions, the proposal is made that an additional factor may be required in certain circumstances for the development of the Omenn phenotype. 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	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020