Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
CM Roifman, Y Gu, A Cohen - Journal of allergy and clinical immunology, 2006 - Elsevier
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 …
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 …