Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Anna Villa, Luigi D. Notarangelo, Chaim M. Roifman

Research output: Contribution to journalArticle

Abstract

Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic diarrhea, and failure to thrive. Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and eosinophilia. The inflammation observed in these patients is believed to be triggered by clonally expanded T cells, which are predominantly of the T H2 type. These abnormal T cells, in the absence of proper regulation by other components of the immune system, secrete a host of cytokines that promote autoimmune as well as allergic inflammation. The emergence of these T-cell clones occurs in patients with hypomorphic mutations in recombination activating gene 1 or 2, but not in patients with deleterious mutations in these enzymes which render them inactive. Recently, OS was also identified in a growing list of other leaky SCIDs with mutations in RNA component of mitochondrial RNA processing endoribonuclease, adenosine deaminase, IL-2 receptor γ, IL-7 receptor α, ARTEMIS, and DNA ligase 4. This new information revealed OS is a distinct inflammatory process that can be associated with genetically diverse leaky SCIDS.

Original languageEnglish
Pages (from-to)1082-1086
Number of pages5
JournalJournal of Allergy and Clinical Immunology
Volume122
Issue number6
DOIs
Publication statusPublished - Dec 2008

Keywords

  • Immunodeficiency
  • mutation
  • Omenn syndrome
  • SCID

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Fingerprint Dive into the research topics of 'Omenn syndrome: Inflammation in leaky severe combined immunodeficiency'. Together they form a unique fingerprint.

  • Cite this