Article
An immunodeficiency disease with RAG mutations and granulomas.
The New England journal of medicine - 8 May 2008
Schuetz Catharina, Huck Kirsten, Gudowius Sonja, Megahed Mosaad, Feyen Oliver, Hubner Bernd, Schneider Dominik T, Manfras Burkhard, Pannicke Ulrich, Willemze Rein, Knüchel Ruth, Göbel Ulrich, Schulz Ansgar, Borkhardt Arndt, Friedrich Wilhelm, Schwarz Klaus, Niehues Tim
Abstract excerpt
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...
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