Omenn syndrome does not live by V(D)J recombination alone

Veronica Marrella, Virginia Maina, Anna Villa

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose of Review: During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the pathogenesis of severe combined immunodeficiencies. Here, we describe the expanding clinical and immunological spectrum associated with Omenn syndrome phenotype. In particular, we review the cellular and molecular mechanisms involved in the pathophysiology of classical Omenn syndrome due to the recombination activating gene (RAG) defects and of a new subgroup of Omenn-like disorders. Recent Findings: Different types of mutations are associated with the Omenn phenotype characterized by skin erythroderma, oligoclonal-activated T cells and elevated IgE in the absence of circulating B cells. Extensive studies conducted over the last few years have allowed the definition of the classical form of Omenn syndrome due to hypomorphic defects in genes involved in V(D)J recombination, mainly RAG genes, and Omenn-like features associated with mutations in genes involved in the maturation steps of lymphoid cells other than V(D)J recombination. Moreover, an increasing number of diseases other than those due to V(D)J recombination defects develop Omenn signs. Summary: Impaired but not abolished V(D)J recombination process leads to the generation of a few T cells which expand in the periphery, infiltrate target organs such as skin and gut, resulting in severe erythroderma and colitis, both typical signs of Omenn syndrome. Extensive molecular studies now demonstrate that genes other than V(D)J molecules have a role in the pathogenesis of this disease, supporting the evidence that Omenn defines an inflammatory condition associated with various genetic defects.

Original languageEnglish
Pages (from-to)525-531
Number of pages7
JournalCurrent Opinion in Allergy and Clinical Immunology
Volume11
Issue number6
DOIs
Publication statusPublished - Dec 2011

Keywords

  • inflammation
  • Omenn syndrome
  • severe combined immunodeficiency
  • V(D)J recombination

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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