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An Immunodeficiency Disease with RAG Mutations and Granulomas

2008; Massachusetts Medical Society; Volume: 358; Issue: 19 Linguagem: Inglês

10.1056/nejmoa073966

1533-4406

Catharina Schuetz, Kirsten Huck, Sonja Gudowius, Mosaad Megahed, Oliver Feyen, Bernd Hubner, Dominik T. Schneider, Burkhard Manfras, Ulrich Pannicke, Rein Willemze, Ruth Knüchel, U. Göbel, Ansgar Schulz, Arndt Borkhardt, Wilhelm Friedrich, Klaus Schwarz, Tim Niehues,

Immune Cell Function and Interaction

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.