Omenn syndrome in an infant with IL7RA gene mutation

J Pediatr. 2006 Feb;148(2):272-4. doi: 10.1016/j.jpeds.2005.10.004.

Abstract

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Consanguinity
  • Humans
  • Infant
  • Leukocyte Common Antigens / metabolism
  • Male
  • Mutation*
  • Phenotype
  • Receptors, Interleukin-7 / genetics*
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*
  • T-Lymphocytes / metabolism

Substances

  • Receptors, Interleukin-7
  • Leukocyte Common Antigens

Grants and funding