RAG mutations in severe combined immunodeficiency and Omenn's syndrome

Klaus Schwarz, Anna Villa

Research output: Contribution to journalArticlepeer-review


Recombinase-activating gene (RAG) proteins play a fundamental role in lymphoid development. As heterodimeric endonucleases, they initiate V (D) J recombination, a lymphocyte-specific process that assembles B- and T-cell antigen receptor genes from subgenic V, D, and J elements. Recently, the function of the RAG protein domains has been characterized better. A complete loss of RAG function causes SCID without B and T cells (B -T - SCID). Hypomorphic RAG alleles with residual V (D) J recombination function result in an immunodeficiency with autoreactive manifestations (i.e., Omenn's syndrome).

Original languageEnglish
Pages (from-to)129-142
Number of pages14
JournalImmunology and Allergy Clinics of North America
Issue number1
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Immunology and Allergy

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