Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

• 30 April 2006
• journal article
• case report
• Published by Elsevier in Journal of Allergy and Clinical Immunology
• Vol. 117  (4) , 897-903
• https://doi.org/10.1016/j.jaci.2006.01.003

Abstract

Keywords

• PRIMARY IMMUNODEFICIENCY
• MUTATION
• BMT
• BONE MARROW TRANSPLANT
• CHH
• CARTILAGE-HAIR HYPOPLASIA
• MRP
• MITOCHONDRIAL RNA PROCESSING
• RAG
• RECOMBINATION ACTIVATING GENE
• RMRP
• RNASE MITOCHONDRIAL RNA PROCESSING
• SCID
• SEVERE COMBINED IMMUNODEFICIENCY