Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome - PubMed (original) (raw)
Case Reports
. 2006 Apr;117(4):897-903.
doi: 10.1016/j.jaci.2006.01.003.
Affiliations
- PMID: 16630949
- DOI: 10.1016/j.jaci.2006.01.003
Case Reports
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
Chaim M Roifman et al. J Allergy Clin Immunol. 2006 Apr.
Abstract
Background: Omenn syndrome is a variant of severe combined immunodeficiency disease, which most prominently presents with erythroderma, eosinophilia, and susceptibility to various pathogens. Mutations in the nucleases of recombination activating genes 1 and 2 (RAG1/RAG2) or Artemis were found in some, but not all, patients with Omenn syndrome. We identified 2 patients who presented with clinical features consistent with Omenn syndrome but had no mutations in RAG or Artemis. Both patients also had cartilage-hair hypoplasia (CHH).
Objectives: We sought to define the molecular basis and characterize the features of severe combined immunodeficiency and Omenn syndrome in these patients.
Methods: We have studied humoral and cellular immunity using standard assays. T-cell repertoire was investigated by quantitating Vbeta families. The RNase mitochondrial RNA processing (RMRP) RNA gene was sequenced by using standard techniques.
Results: Sequence analysis of the RMRP RNA gene showed that each patient had an insertion-duplication on one allele and a point mutation on the other allele. These point mutations were novel, and they might be related to the unusual presentation of Omenn syndrome in addition to CHH in these patients. Indeed, analysis of the thymus showed residual mature T lymphocytes. This leaky thymus might be responsible for the skewed release of some T-cell clones into the circulation, which might trigger the phenotype of Omenn syndrome.
Conclusion: We have demonstrated that mutations in the RMRP RNA gene might be associated with Omenn syndrome.
Clinical implications: This discovery will aid clinicians in the early recognition and treatment of CHH-associated Omenn syndrome.
Comment in
- The last 80 years in primary immunodeficiency: how far have we come, how far need we go?
Shearer WT, Fischer A. Shearer WT, et al. J Allergy Clin Immunol. 2006 Apr;117(4):748-52. doi: 10.1016/j.jaci.2006.02.029. J Allergy Clin Immunol. 2006. PMID: 16630928 Review. No abstract available.
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