An Immunodeficiency Disease withRAGMutations and Granulomas
| Autor: | Sonja Gudowius, Tim Niehues, Ulrich Göbel, Kirsten Huck, Dominik Schneider, Ruth Knüchel, Catharina Schuetz, Klaus Schwarz, Burkhard Manfras, Wilhelm Friedrich, Oliver Feyen, Arndt Borkhardt, Rein Willemze, Ulrich Pannicke, Bernd Hubner, Mosaad Megahed, Ansgar Schulz |
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| Rok vydání: | 2008 |
| Předmět: |
Heterozygote
Lymphoma B-Cell Genes RAG-1 medicine.disease_cause Compound heterozygosity Skin Diseases Virus Hypogammaglobulinemia Chickenpox Agammaglobulinemia RAG2 hemic and lymphatic diseases Immunopathology medicine Humans Lymphocyte Count Child Skin Mutation Granuloma business.industry Immunologic Deficiency Syndromes General Medicine medicine.disease Omenn syndrome Pedigree Lymphoma DNA-Binding Proteins Child Preschool Face Immunology Female business |
| Zdroj: | New England Journal of Medicine. 358:2030-2038 |
| ISSN: | 1533-4406 0028-4793 |
| DOI: | 10.1056/nejmoa073966 |
| Popis: | We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All three girls had severe complications after viral infections, including B-cell lymphoma associated with Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T and B cells, and sparse thymic tissue on ultrasonography. Molecular analysis revealed that the patients were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2). In each case, both parents were heterozygous carriers of a RAG mutation. The mutations were associated with reduced function of RAG in vitro (3 to 30% of normal activity). The parents and one sibling in the three families were healthy. |
| Databáze: | OpenAIRE |
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