Novel presentation of Omenn syndrome in association with aniridia

J Allergy Clin Immunol. 2009 Apr;123(4):966-9. doi: 10.1016/j.jaci.2008.12.007.

Abstract

We report a case of Omenn Syndrome presenting in association with aniridia arising from 3 maternally-inherited RAG mutations compounded by a deletion encompassing RAG and PAX6 genes on the paternally-inherited chromosome.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aniridia / etiology*
  • DNA-Binding Proteins / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • RAG2 protein, human
  • RAG-1 protein