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.
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From the Departments of Pediatrics and Adolescent Medicine (C.S., A.S., W.F.) and Internal Medicine (B.M.) and the Institute for Transfusion Medicine (U.P.), University Hospital Ulm, and the Institute for Clinical Transfusion Medicine and Immunogenetics (K.S.) — all in Ulm; the Department of Pediatric Oncology, Hematology, and Clinical Immunology, Children's Hospital, Universitäts Klinikum Düsseldorf, Heinrich Heine University, Düsseldorf (K.H., S.G., O.F., B.H., D.T.S., U.G., A.B., T.N.); and the Departments of Pathology (R.K.) and Dermatology (M.M.), University Hospital Aachen, Aachen — all in Germany; and the Department of Dermatology, Leiden University Medical Center, Leiden, the Netherlands (R.W.).
Address reprint requests to Dr. Niehues at the Center for Child and Adolescent Health, HELIOS Klinikum Krefeld, Academic Hospital, Heinrich Heine University of Düsseldorf, Lutherpl. 40, 47805 Krefeld, Germany, or at tim.niehues{at}helios-kliniken.de.
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