Omenn syndrome due to ARTEMIS mutations

Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24.

Abstract

Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the recombination activating genes 1 and 2 (RAG1/2) have been described in OS. We report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations. The patient's T cells expressed alpha/beta receptors with an oligoclonal repertoire but normal V(D)J recombination coding joints. Sequencing of the ARTEMIS gene revealed a compound heterozygosity in this nonhomologous end-joining (NHEJ) factor, explaining the enhanced radiosensitivity of the patient's primary dermal fibroblasts. The maternal allele contained a null mutation within the active center, whereas the expression of the paternal allele with a start codon (AUG to ACG) mutation partially restored V(D)J recombination and ARTEMIS function in vivo and in vitro.

Publication types

  • Case Reports

MeSH terms

  • Codon, Initiator
  • DNA-Binding Proteins / genetics
  • Endonucleases
  • Fibroblasts / radiation effects
  • Gene Rearrangement, T-Lymphocyte*
  • Genes, T-Cell Receptor
  • Heterozygote
  • Homeodomain Proteins / genetics
  • Humans
  • Infant
  • Male
  • Mutation / physiology*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Sequence Analysis, DNA
  • Severe Combined Immunodeficiency / etiology
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • Skin / pathology
  • Syndrome

Substances

  • Codon, Initiator
  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • RAG2 protein, human
  • V(D)J recombination activating protein 2
  • RAG-1 protein
  • DCLRE1C protein, human
  • Endonucleases